Hypospadias 3, Autosomal |
|
Hypospadias |
OMIM:146450 |
Hypospadias 2, X-Linked |
|
Penoscrotal hypospadias |
OMIM:300758 |
Hypospadias 1, X-Linked |
|
Perineal hypospadias |
OMIM:300633 |
Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... |
ORPHA:50251 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
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 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
15q24 recurrent microdeletion syndrome |
|
Hypospadias |
DECIPHER:66 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... |
ORPHA:60026 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Follicular Lymphoma |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chronic pu... |
ORPHA:2414 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage... |
OMIM:613390 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Glandular hypospadias |
OMIM:176305 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Squamous Cell Carcinoma Of The Esophagus |
|
Cough, Lymphadenopathy |
ORPHA:99977 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmon... |
OMIM:612387 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Bilateral sensorineural hearing impairment, Dysphagia |
OMIM:619083 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Microcephaly, Horseshoe kidney, Vaginal fistula, Anal atresia |
OMIM:619318 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Ventricular septal defect, Microcephaly, Atrial septal defect, Anal ... |
ORPHA:3469 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Cleft palat... |
OMIM:220210 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, ... |
ORPHA:199241 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:261204 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... |
ORPHA:93928 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Renal hypoplasia, High palate, ... |
OMIM:612946 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypospadias |
OMIM:179250 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias, Microcephaly |
ORPHA:1919 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hypospadias, High palate, Anal a... |
ORPHA:2863 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym... |
OMIM:619126 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology, Stillbirth, Anal... |
OMIM:276950 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... |
ORPHA:456328 |
Congenital Heart Block |
|
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... |
ORPHA:60041 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Renal hypoplasia/aplasia, Anencephaly, Aplasia/Hypoplasia of the cor... |
ORPHA:1590 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Tracheoesophageal fistula, High palate, Crumpled ear, Abnormally folded h... |
ORPHA:115 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Inguinal hernia, Ventricular septal defect, Abnormal mitra... |
ORPHA:7 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion |
ORPHA:85414 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... |
ORPHA:90186 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Simplified gyral pattern, ... |
OMIM:618815 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion |
OMIM:602248 |
Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Short phi... |
OMIM:609425 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Dysplastic corpus callosum, Vesicoureteral reflux, Renal hypo... |
OMIM:616854 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias |
ORPHA:250994 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra... |
OMIM:314390 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... |
ORPHA:139466 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Decreased fertility, Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
OMIM:309548 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular... |
OMIM:620135 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervica... |
ORPHA:3392 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thin upper lip vermilion, Posteriorly rotated ears, Low-set ears, Long philtrum, Recurrent hand f... |
OMIM:618147 |
Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate, Protruding ear |
ORPHA:3448 |
Schisis Association |
|
Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate |
ORPHA:63862 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Transposition of the great arte... |
OMIM:231060 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Renal dysplasia |
OMIM:615985 |
Acces Syndrome |
|
Tracheoesophageal fistula, Low-set ears, Protruding ear |
OMIM:619959 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, An... |
ORPHA:2345 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Dextrocardia, Microcephaly, Malabsorption, Ab... |
ORPHA:2315 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve, Hypospadias, Microcephaly, Cryptorchidism, Decreased testicular size |
OMIM:300997 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Epispadias, Ectopic scrotum, Duplicated colon, Atrial septal... |
ORPHA:227 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia |
OMIM:274265 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Dental malocclusion, Macrotia, Abnormal repe... |
OMIM:615541 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias |
ORPHA:1355 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... |
ORPHA:90797 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Pleural effusion, Ascites, Edema |
OMIM:603278 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Omphalocele, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, C... |
ORPHA:95706 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Ventricular septal defect, Truncus arteriosu... |
OMIM:609029 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Cleft palate, High palate, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity di... |
OMIM:620021 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Microcephaly... |
OMIM:264480 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Low-set ears |
OMIM:619859 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cleft palate |
OMIM:302905 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Abnormal cardiac septum morphology, Micropenis |
OMIM:612626 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospadias, Absent septum pel... |
OMIM:309801 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Renal agenesis, Intestinal malrota... |
OMIM:115470 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... |
ORPHA:83628 |
Lambert Syndrome |
|
Hypospadias |
OMIM:245550 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Tracheoesophageal fistula, Abnormal palate morphology, Protruding ear |
ORPHA:3068 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Sensorineural ... |
OMIM:618342 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Microcephaly, Precocious puberty, Cleft palate, Hypoplasia of the corpus callosum, Dysplastic pul... |
OMIM:300958 |
17Q12 Microduplication Syndrome |
|
Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Lo... |
ORPHA:1848 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Hypospadias |
ORPHA:2261 |
Emanuel Syndrome |
|
High palate, Atrial septal defect, Micropenis, Agenesis of corpus callosum, Bifid uvula, Cryptorc... |
ORPHA:96170 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Spina bifida occulta, Hypospadias |
OMIM:101805 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... |
ORPHA:2136 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomat... |
OMIM:234810 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Myelomeningocele, Abnormal heart morphology, Microphal... |
ORPHA:94065 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Prune belly, Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Microcephaly, Focal p... |
OMIM:619103 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Mi... |
ORPHA:1194 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Septate vagina, Valvular pulmonary... |
OMIM:300707 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal f... |
ORPHA:59315 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Vaginal fistula, Abnormality of female external genitalia, Renal hypoplasia/aplasia, Persistent c... |
ORPHA:1112 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Axial Mesodermal Dysplasia Spectrum |
|
Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Microtia, Abnormal intestine m... |
ORPHA:1834 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, External genital hypoplasia, Pulmonic stenosis |
OMIM:249670 |
Disorganization, Mouse, Homolog Of |
|
Sensorineural hearing impairment, Cleft palate, Cleft upper lip |
OMIM:223200 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Opitz Gbbb Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Microcephaly, Rectourethral fistula, Cry... |
OMIM:300000 |
Otoonychoperoneal Syndrome |
|
Hypospadias |
OMIM:259780 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Horsesho... |
OMIM:218350 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... |
OMIM:612290 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate |
ORPHA:2015 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Tetralogy of Fallot, Hypospadias, Microcephaly |
ORPHA:276422 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
Distal Deletion 10P |
|
Hypoplasia of penis, Microcephaly, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus... |
ORPHA:1580 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Low-set ears, Overfolded helix, ... |
OMIM:300514 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, C... |
ORPHA:2008 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Low-set ears, Duodena... |
OMIM:619227 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
Immunodeficiency 91 And Hyperinflammation |
|
Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Lymphadenopathy, Hepatosp... |
OMIM:619644 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Cryptorchidi... |
ORPHA:261344 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Bifid scrotum, Hypospadias, Microcephaly, Cryptorchidism, Penoscrotal transpositio... |
OMIM:619148 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Renal dysplasia, Inguinal hernia, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Agenesis o... |
ORPHA:2508 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Low-set ears, Bruxism, Abnor... |
OMIM:618718 |
Adenocarcinoma Of The Esophagus |
|
Cough, Lymphadenopathy |
ORPHA:99976 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp... |
OMIM:615599 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Intestinal malrotation, Dilatated internal auditory canal, Hypoplasia o... |
OMIM:113650 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Mediastinal lymphadenopathy, Atelectasis, Dyspnea, Asthma, Bro... |
OMIM:620233 |
Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Splenomegaly, Angioedema, Dyspnea, Lymphadenopathy, Small vessel vasculitis... |
ORPHA:36412 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:612964 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplas... |
OMIM:618325 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrota... |
ORPHA:2059 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypop... |
ORPHA:2166 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Microcephaly, Precocious puberty, Abnormal heart morp... |
ORPHA:261652 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Unilateral r... |
ORPHA:411709 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Sensorineural hearing impairment, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate |
ORPHA:1703 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Widely-spaced incisors |
ORPHA:79414 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh... |
OMIM:614702 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Abnormal semicir... |
ORPHA:87 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia |
OMIM:153400 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Prune be... |
OMIM:601389 |
X-Linked Intellectual Disability, Abidi Type |
|
Cleft palate, Non-midline cleft lip, Hearing impairment, Protruding ear |
ORPHA:85273 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Cryptorchidism, Abno... |
ORPHA:500159 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidn... |
ORPHA:93929 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Microcephaly, High palate, Transposi... |
ORPHA:1913 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,... |
ORPHA:188 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Tracheoesophageal fistula, High palate, Hypoplastic helices, P... |
ORPHA:2437 |
Dihydropyrimidinase Deficiency |
|
Abnormal cerebral white matter morphology, Uraciluria, Anal atresia |
OMIM:222748 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction, Clitoral hypertrophy |
OMIM:150700 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Thakker-Donnai Syndrome |
|
Posteriorly rotated ears, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal fi... |
ORPHA:1780 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypospadias |
ORPHA:1548 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Hearing impairment |
ORPHA:77298 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... |
OMIM:277380 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Cat-Eye Syndrome |
|
Anal atresia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Dysphagia, Wide mouth, Hypoplasia of the semicircular canal, Gastroeso... |
ORPHA:251061 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus... |
OMIM:235200 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Displacement of the urethral meatus, Intestinal malrotation |
ORPHA:2301 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Branchial Arch Syndrome, X-Linked |
|
Microcephaly, Cryptorchidism, High, narrow palate, High palate, Pulmonic stenosis |
OMIM:301950 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... |
OMIM:618761 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... |
OMIM:616898 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... |
ORPHA:2973 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Chronic Granulomatous Disease |
|
Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Gingivitis, Otitis media |
ORPHA:379 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, High palate, Vesicoureteral reflux, Atrial septal defect, Agenesis of corpus callo... |
ORPHA:2745 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical... |
OMIM:175700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Recurrent pneumonia, Lymphadenopathy, Hepatos... |
OMIM:618935 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypospadias |
ORPHA:2252 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral r... |
OMIM:618845 |
Penile Agenesis |
|
Ambiguous genitalia, Urethral atresia, male, Ventricular septal defect, Hydroureter, Cloacal abno... |
ORPHA:49 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous cleft h... |
OMIM:612863 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Aplasia of the abdominal wall musculature, Congenital po... |
OMIM:100100 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Hearing impairment, Cleft lip, Pyloric stenosis, Gastr... |
ORPHA:1199 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Microcephaly, Cryptorchidism, Abnormal renal morphology, High palate, Atrioventricular canal defe... |
OMIM:613792 |
Triploidy |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocepha... |
ORPHA:3376 |
Distal Duplication 15Q |
|
Omphalocele, Microcephaly, Cryptorchidism, High palate, Abnormality of female external genitalia,... |
ORPHA:1707 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1756 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ... |
OMIM:613563 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... |
OMIM:265380 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, O... |
ORPHA:958 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Neurogenic bladder, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Abnormal lung morphology, Abn... |
ORPHA:464329 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorc... |
ORPHA:93932 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Coronal hypospadias, Cryptorchidism, Abnormal localization of kidney, Cleft palate, ... |
ORPHA:921 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Anotia, Microtia, Atresia of the external auditory ca... |
ORPHA:268249 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Hypospadias |
OMIM:618330 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... |
ORPHA:391641 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Oeis Complex |
|
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... |
OMIM:258040 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
Infantile Myofibromatosis |
|
Gingival fibromatosis, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal f... |
ORPHA:2591 |
Familial Spontaneous Pneumothorax |
|
Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Hypospadias, Abnormal intestine morphology |
ORPHA:3080 |
Renpenning Syndrome |
|
Hypospadias, Microcephaly, High, narrow palate, Cleft palate, Decreased testicular size, Anal atr... |
ORPHA:3242 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, High, narrow palate, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Mi... |
ORPHA:2872 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia, Congenital pyloric atresia |
OMIM:612138 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, Hypoplasia of the co... |
OMIM:617751 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Clitoral hypertrophy, Renal agenesis, Mitral atresia, Ectopic kidney, Horses... |
ORPHA:140952 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Aspergillosis |
|
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... |
ORPHA:1163 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... |
ORPHA:797 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... |
ORPHA:284227 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Anal atresia, Microcephaly |
ORPHA:93950 |
Verheij Syndrome |
|
Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation, Truncus... |
OMIM:615583 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft... |
OMIM:615524 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Ovarian Fibroma |
|
Pleural effusion, Ascites |
ORPHA:314473 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... |
OMIM:614096 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Hypogonadism, Atrial ... |
OMIM:615981 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Clitoral hypertrophy, Anal stenosis, Ventricular septal defect, Hypospadias, ... |
OMIM:617063 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia |
OMIM:246000 |
Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morpho... |
OMIM:601499 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... |
OMIM:261740 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... |
ORPHA:542323 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Tics,... |
OMIM:617808 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
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 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Trisomy 4P |
|
Cryptorchidism, Hypospadias |
ORPHA:1738 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Hearing impairment |
OMIM:120433 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping |
OMIM:300624 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia |
ORPHA:2310 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... |
ORPHA:397951 |
Immunodeficiency 104 |
|
Splenomegaly, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:2013 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Thick lower lip vermilion, St... |
OMIM:614104 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy |
OMIM:613011 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Cupped ear, Mandi... |
OMIM:602483 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Miscarriage, Abnormal... |
ORPHA:2438 |
Pontocerebellar Hypoplasia, Type 11 |
|
Anal atresia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617695 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... |
ORPHA:64739 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300934 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... |
ORPHA:2038 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, High palate, Atrial septal defect... |
OMIM:612582 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Ventricular septal defect, Distal urethr... |
OMIM:146510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... |
ORPHA:449280 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Wide mouth, Widely spaced teeth, Macrotia, Abnormal repetitive manneris... |
OMIM:619877 |
Congenital Tracheal Stenosis |
|
Abnormal bronchus morphology, Abnormal stomach morphology, Tracheoesophageal fistula, Abnormal ea... |
ORPHA:141127 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Microcephaly, Vesicoureteral reflux, Cleft palate, Atrial s... |
OMIM:614749 |
Gorham-Stout Disease |
|
Lymphangioma, Pleural effusion, Edema, Rhinorrhea |
ORPHA:73 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Anal stenosis, Hypospadias, Intestinal malrotation, Cryptorchidism, Partial agen... |
OMIM:305450 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anotia, Microtia, Low-set ears, Anal... |
OMIM:614083 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morpholog... |
OMIM:300978 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Microgastria, Agenesis of corpus callosum, Multicystic kidney dysplasia, Ab... |
ORPHA:2538 |
Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Abnormal repetitive man... |
OMIM:182290 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Micropenis, Hypospadias, Hypercalciuria |
OMIM:614732 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Splenomegaly, Congestive heart failure... |
ORPHA:33226 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hydronephrosis, Gonadal dy... |
OMIM:154230 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Secondary microcepha... |
OMIM:613730 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Renal cyst, Atrial septal defect, Agenesis of corpus callosu... |
OMIM:229850 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Microcep... |
OMIM:601808 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, 3-Methylglutar... |
OMIM:610198 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Hypospadias, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Abnormal ... |
ORPHA:314679 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Hypospadias, Bilateral cryptorchidism, Hypoplasia of the corpus callosum, ... |
OMIM:618156 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia |
OMIM:227260 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Abnormal tongue physiology, Anteverted ears, Abnormal eating behavior, Wide mouth, Obsessive-comp... |
ORPHA:544254 |
Feingold Syndrome 1 |
|
Posteriorly rotated ears, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoe... |
OMIM:164280 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi... |
ORPHA:3138 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Male pseu... |
ORPHA:2075 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Gastritis, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum |
ORPHA:2575 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Male hypogonadism, Decreased testicu... |
ORPHA:163971 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Microcephaly, Precocious puberty, Cryptorchidism, Anal atresia |
OMIM:619243 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Microcephaly, Cerebral atrophy, Cleft pa... |
OMIM:616449 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Low-set ... |
OMIM:613443 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pulmonic stenosis, Aortic va... |
ORPHA:228410 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:620292 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Esophageal atresia, Tracheoesophageal fistula, Anotia, Abnormality of the... |
ORPHA:3412 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Thick ... |
OMIM:618027 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Abnormality of the pulmonary artery, Short stature, Webbed neck |
ORPHA:1131 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Microcephaly, Chronic kidney disease, Renal hypoplasia, Anteriorly pla... |
OMIM:617661 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Intestinal l... |
ORPHA:90362 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... |
ORPHA:567546 |
Diprosopus |
|
External ear malformation, Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Hypospadias, Intestinal malrotation, Cryptorchidism, High palate, Atri... |
OMIM:617602 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Cerebral atrophy, A... |
ORPHA:171839 |
Alazami Syndrome |
|
Abnormal eating behavior, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth... |
ORPHA:319671 |
Sirenomelia |
|
Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Abnormality of th... |
ORPHA:3169 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadi... |
ORPHA:1335 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Dilatation of the cerebral artery, Bacterial... |
ORPHA:615 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Thick vermilion border |
OMIM:619690 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Ambiguous genitalia, Hypospadias, Nephroblastoma, Hy... |
OMIM:257300 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:94066 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Increased ove... |
OMIM:618504 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation, Pulmonary artery stenosis |
ORPHA:435938 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Abnormality of the upper urinary tract, Microcephaly, Spi... |
ORPHA:3380 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Downturned corners of mouth, Wide ... |
OMIM:301030 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Dental malocclusion, Wide mouth, High ... |
OMIM:610883 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Pontocerebellar Hypoplasia, Type 13 |
|
Pleural effusion, Asthma, Recurrent respiratory infections, Edema |
OMIM:618606 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Rhizomelic Syndrome |
|
Pulmonic stenosis, Microcephaly |
OMIM:268250 |
Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Narrow mouth, Repetitive compulsive behavior, Short philtrum, Compulsive behaviors... |
ORPHA:352490 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Tracheoesophageal fistula, Cleft palate, Protruding ear, Anal atresia |
ORPHA:2879 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Microcephaly, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, Ma... |
OMIM:618874 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Cryptorchidism, Cortical dysplasia, Simplified gyral pattern, Abnormal cerebral whit... |
OMIM:300354 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti... |
OMIM:618825 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Chylothorax, Edema, Lymphedema |
ORPHA:2526 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Abnormality of the dentition, Carious teeth, Malabsorption, Anorectal anomal... |
ORPHA:1775 |
Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Lymphadenopathy, Pleural effusion, Ascites |
ORPHA:93552 |
Noonan Syndrome 8 |
|
Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyo... |
OMIM:615355 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Hypoplastic anterior commis... |
OMIM:616975 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidis... |
OMIM:301056 |
Distal Deletion 10Q |
|
Microcephaly, Functional abnormality of the bladder, Spina bifida occulta, Vesicoureteral reflux,... |
ORPHA:96148 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Atrial septal defect, Hypospadias, Spina bifida, Aplasia/... |
ORPHA:84 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Cleft palate, Abnormality of the scrotu... |
ORPHA:397590 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior |
ORPHA:382 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... |
OMIM:617397 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Congenital Enterovirus Infection |
|
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Shawl s... |
OMIM:617516 |
Fg Syndrome 5 |
|
Hypospadias |
OMIM:300581 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Prominent ear helix, Large earlobe, Thick vermilion border, Short philt... |
ORPHA:411986 |
Split hand/foot malformation 1 (SHFM1) |
|
Sensorineural hearing impairment, Median cleft lip, Cleft palate |
DECIPHER:46 |
Baller-Gerold Syndrome |
|
Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Cleft palate, Anterior... |
ORPHA:1225 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, High palate, Everted lower lip... |
OMIM:619736 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Female external genitalia in individual... |
ORPHA:90791 |
Pneumothorax, Primary Spontaneous |
|
Spontaneous pneumothorax |
OMIM:173600 |
Pulmonary Bullae Causing Pneumothorax |
|
Repeated pneumothoraces |
OMIM:265200 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias |
OMIM:301045 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Microceph... |
ORPHA:912 |
Laurence-Moon Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus |
ORPHA:2377 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Testicular mass, ... |
ORPHA:457083 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Hypospadias |
OMIM:618688 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Cleft palat... |
OMIM:313850 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... |
OMIM:611376 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Ventricular septal defect, Hypospadias, Parachute mitral valve, Intestinal malrotati... |
OMIM:618316 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Hypospadias, Secundum atrial septal defect, Cryptorchidism, Partial agenesis of ... |
OMIM:618109 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Abnormal cardiac septum morphology, Anal atresia, Microcephaly |
ORPHA:1352 |
Poems Syndrome |
|
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, R... |
ORPHA:2905 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Microcephaly, High, narrow palate, Cryp... |
ORPHA:96169 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Sensorineural hearing impairment, Cleft palate, Long philtrum |
ORPHA:166100 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Ventricular septal defect, Renal agenesis, Aganglionic megacolo... |
OMIM:607323 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Hypospadias, Death in childhood |
OMIM:619334 |
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 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Hypospadias, Microcephaly, Cryptorchidism, Meningocele, Abnormality of the urete... |
ORPHA:2311 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Cupped ear, Cleft palate, Narrow mouth |
ORPHA:93946 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Anencephaly, Cleft palate, Renal cyst, Micropenis, Bifid uvula |
OMIM:614175 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Splenomegaly, Myocarditis, V... |
ORPHA:781 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Cleft upper lip, External ear malfo... |
ORPHA:138 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleural effus... |
OMIM:616897 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Widely spaced teeth, Low-set ears, Overfolded helix, Abnormal repetitive manne... |
OMIM:619092 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... |
ORPHA:3027 |
Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Dextrocardia, Microcephaly, High, narrow palate, Cryptorchidism, Py... |
OMIM:248700 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormality of the dentition, Aggressive behavior, Thin vermilion border, Macrotia... |
ORPHA:391307 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonic stenosis, Death in infancy |
OMIM:619433 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Self-injurious behavior, Thin vermilio... |
ORPHA:238750 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Microcephaly, Urethral stenosis, Cleft palate, Hypoplastic left heart,... |
ORPHA:1727 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Condu... |
OMIM:214300 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... |
ORPHA:90796 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... |
ORPHA:67 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Widely spaced teeth, Bruxism, Abnormal repetitive mannerisms, Smooth philtrum, Hearing impairment |
OMIM:616351 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Microcephaly, Myelomeningocele, Pulmonic stenosis, Hydronephrosis |
OMIM:620141 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Lymphad... |
OMIM:605258 |
Marden-Walker Syndrome |
|
Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Multicystic kidn... |
ORPHA:2461 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Microcephaly, Secundum atrial septal defect, Bilateral cryptorchi... |
ORPHA:1600 |
Xq28 (MECP2) duplication |
|
Macrotia, Abnormal repetitive mannerisms, Dysphagia, Narrow mouth |
DECIPHER:45 |
Seckel Syndrome 2 |
|
Microglossia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites |
ORPHA:314478 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix |
OMIM:609654 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Test... |
OMIM:180860 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hern... |
ORPHA:96129 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos... |
ORPHA:261494 |
Acrocallosal Syndrome |
|
Inguinal hernia, Hypospadias, Abnormal pulmonary valve morphology, Protruding tongue, Cryptorchid... |
OMIM:200990 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri... |
OMIM:619167 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Hearing ... |
OMIM:619981 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Lymphadenopathy, Fluctuating spleno... |
OMIM:619220 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid steno... |
OMIM:212093 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Recurrent bronchiolitis, Lymphadenopathy |
OMIM:619164 |
Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Cleft palate, Narrow mouth |
OMIM:246560 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Microcephaly, Bilateral cryptorchidism, High, narrow palate, Hydroc... |
ORPHA:2409 |
Branchiootic Syndrome |
|
Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft palate, Atresia of... |
ORPHA:52429 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Hypospadias, Ectopic kidney |
OMIM:300919 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,... |
OMIM:123450 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... |
ORPHA:2010 |
Septopreoptic Holoprosencephaly |
|
Megalencephaly, Microcephaly, Precocious puberty, Perisylvian polymicrogyria, Anteriorly placed a... |
ORPHA:280195 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Agenesis of c... |
ORPHA:3301 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... |
OMIM:140000 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Narrow palate, Cleft palate, High... |
OMIM:615102 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cleft palate |
ORPHA:90654 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... |
ORPHA:500 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lymphadenopathy, Dys... |
OMIM:181000 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Cerebral atrophy, Secondary microcephaly, Pulmonic ste... |
OMIM:179613 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Anal atresia |
OMIM:119580 |
Immunodeficiency 52 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Chronic lung disease |
OMIM:617514 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Splen... |
OMIM:256550 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Hypoplasia of ... |
ORPHA:494344 |
Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Thick lower lip vermilion, Bruxism, Self-injurious behavior, Widely spa... |
OMIM:618004 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Ascites, Lymphadenopathy |
ORPHA:100025 |
Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Abnormality of the upper urinary tract |
ORPHA:1807 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Self-injurious behavior, Abnormal repetitive mannerisms, Smooth philtrum |
OMIM:618218 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Hypospadias, Aganglionic megacolon, Microcephaly, Cleft palate, Hypoplasia of the ... |
ORPHA:66629 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Holoprosencephaly, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney... |
OMIM:107480 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Urinary incontinence, Sept... |
OMIM:176450 |
Seckel Syndrome 5 |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy |
OMIM:613823 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent upper and lower respiratory tract infections, Lymphadenopathy |
OMIM:608106 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactivity disorder |
OMIM:618906 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Hypospadias |
OMIM:619759 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Septate vagina, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal def... |
OMIM:617925 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Hypospadias |
OMIM:618972 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Lymp... |
OMIM:300853 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal ... |
OMIM:618494 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... |
ORPHA:85451 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Everted upper lip vermilion, Wide mouth, High palate, Short philtrum, Abnormal repetitive mannerisms |
ORPHA:280763 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-... |
OMIM:616393 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,... |
OMIM:192350 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, High palate, ... |
ORPHA:3306 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Neonatal death, Atrial... |
OMIM:608978 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, La... |
OMIM:164745 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Ag... |
OMIM:618430 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology |
ORPHA:97290 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Anal stenosis, Enlarged l... |
OMIM:606170 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... |
OMIM:253250 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Lobulated tong... |
OMIM:249000 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Accessory oral frenulum, Overfolded helix, Cleft palate, Abnormal antihelix morpho... |
ORPHA:79113 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated... |
OMIM:208000 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recur... |
OMIM:240500 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, Microcephaly |
OMIM:605724 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Subcortical band heterotopia, Simplified gyral pattern, Renal hypoplasia, Anteriorly... |
OMIM:601390 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Urethral atresia, High palate, Encephalocele, Death in infanc... |
ORPHA:2052 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Ovotestis, Cle... |
OMIM:611812 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Downturned corners ... |
OMIM:617796 |
Aica-Ribosiduria |
|
Fused labia minora, Clitoral hypertrophy |
ORPHA:250977 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe... |
OMIM:235510 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymphadenopathy, Cough, Pleural ef... |
OMIM:306400 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Abnorm... |
ORPHA:284169 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Dental crowding, Cleft helix, Hamar... |
ORPHA:137888 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, High palate, Short philtrum, Low-set ears, ... |
OMIM:616579 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cerebral white ... |
OMIM:616737 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Corpus callosum atrophy, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callo... |
OMIM:616875 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology |
ORPHA:319487 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Pelvic kidney, Anal atresia, Microcephaly |
OMIM:617244 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Absence of lymph node germinal center, Recurrent upper respiratory tract infections, R... |
ORPHA:277 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Cle... |
OMIM:619980 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Cleft palate, Hydronephrosis, Bifid uvula, Hypoplasia of the corpus c... |
OMIM:300968 |
Pseudomyxoma Peritonei |
|
Ascites, Respiratory insufficiency, Lymphadenopathy |
ORPHA:26790 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous... |
OMIM:613091 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... |
OMIM:270420 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Microcephaly, Cryptorchidism, Cleft palate, Anteriorly placed anus, Cardiomyopathy, ... |
OMIM:217980 |
Imagawa-Matsumoto Syndrome |
|
Cryptorchidism, Anteriorly placed anus, Umbilical hernia, Polymicrogyria, Agenesis of corpus call... |
OMIM:618786 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Clitoral hypoplasia, Spina bifida occulta, Renal ... |
ORPHA:709 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Macrodontia, Polyphagia, Self-injurious behavior, Ever... |
ORPHA:228402 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Transient ischemic attack, Supraventricular ar... |
ORPHA:3260 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, High palate, Hypospadias, Shawl scrotum |
OMIM:239710 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Absence of lymph node germinal center |
OMIM:608184 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Ventricular septal defect, Microcephaly, Cryptorchidism, Cleft palate, High palate... |
OMIM:617164 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia |
ORPHA:1436 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Leukoencephalopathy, 3-Methylglutaconic aciduria, D... |
OMIM:614052 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Cle... |
ORPHA:107 |
Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
Buratti-Harel Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... |
OMIM:619314 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Tracheoesophageal fistula, Low-set ears, Hearing impairment |
OMIM:227646 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Intestinal m... |
OMIM:300373 |
Galloway-Mowat Syndrome 6 |
|
Downturned corners of mouth, Wide mouth, High palate, Microdontia, Abnormal repetitive mannerisms... |
OMIM:618347 |
Codas Syndrome |
|
Omphalocele, Ventricular septal defect, Cryptorchidism, Rectovaginal fistula, Hypoplasia of the c... |
OMIM:600373 |
Aase-Smith Syndrome I |
|
Death in infancy, Open mouth, Abnormal pinna morphology, Cleft palate |
OMIM:147800 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Bronchiectasis, Lymphadenopathy |
OMIM:618982 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiomegaly, Pericardial effus... |
OMIM:115197 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Umbilical h... |
ORPHA:2505 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cl... |
OMIM:616300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Microcephaly, Pachygyria, Meningoencephalocele, Hydrocephalus, C... |
OMIM:236670 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia |
OMIM:309620 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Aggressive behavior, Dysphagia, Self-injurious behavio... |
OMIM:617061 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Hydro... |
ORPHA:280633 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Leukoencephalopathy |
OMIM:617744 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... |
OMIM:600430 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Microcephaly, High palate, Hypoplasia of the corpus callosum, Shawl scrotum |
ORPHA:1520 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cryptorchidism, C... |
OMIM:151100 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, Macrotia, High palate, Self-mutilation |
ORPHA:457240 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... |
ORPHA:313892 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Splenomegaly, Dyspnea, Congestive heart failure, Myocarditis, Lymphaden... |
ORPHA:3386 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Precocious puberty, Cryptorchidism, Cleft p... |
ORPHA:254346 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve |
OMIM:618955 |
Congenital Tracheomalacia |
|
Bronchomalacia, Anomalous tracheal cartilage, Esophageal atresia, Bronchiectasis, Tracheoesophage... |
ORPHA:95430 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Abnormal repetitive mannerisms, Self-injurious behavior, High palate |
OMIM:615637 |
Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate,... |
OMIM:619312 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Microcephaly, Renal hyp... |
OMIM:309500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
ORPHA:3282 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum, Bladder exstrophy, Anal atresia, Microcephaly |
OMIM:613161 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Hypertrophic cardiomyopathy, Abnormal cardiac septum m... |
ORPHA:251071 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Cleft palate, Death in childhood, Shawl s... |
OMIM:600460 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Hyposp... |
ORPHA:567 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:603116 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Cryptorchi... |
ORPHA:261337 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Everted ... |
ORPHA:261144 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Thin corpus callosum, Hypoplasia of the corpus callosum |
OMIM:300049 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Anal stenosis, Ectopic kidney, Bilateral cryptorchidism, Absent ext... |
OMIM:263650 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias |
OMIM:615761 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, High palate, Hypoplasia of the corpus callosum, Atrial... |
ORPHA:363528 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cupped ear, Cleft palate, Protruding ear, Glo... |
OMIM:616367 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Hypospadias, Horseshoe kidney, Microcephaly |
ORPHA:2319 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Thick lower lip vermil... |
ORPHA:293939 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... |
OMIM:208530 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, At... |
ORPHA:2847 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... |
OMIM:212140 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Pulmonic stenosis |
OMIM:613312 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Hypospadias, Cerebral white matter hypoplasia, High, narrow palate, Cleft palate... |
ORPHA:436003 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... |
ORPHA:679 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Downturned corners of mouth, Self-injurious behavior, High palate, Shor... |
OMIM:613174 |
Christianson Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Hypoplastic left a... |
OMIM:601186 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Abnormal cardiac septum morphology, Cavum septum pellucidu... |
OMIM:615009 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Trisomy 12P |
|
Anal atresia, Abnormality of the urinary system, Cleft palate |
ORPHA:1699 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Sensorin... |
OMIM:212066 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Low-set ears, Attention deficit hyperactivity diso... |
OMIM:618205 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Large basal gangli... |
ORPHA:261552 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy |
OMIM:607271 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia |
ORPHA:884 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Unilateral renal agenesis, Pyloric stenosis, Hypoplasia of the uter... |
OMIM:618419 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Cleft palate |
OMIM:248390 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypospadias, Diastasis recti, Megalencephaly, Cryptorchidism, Polymicrogyria... |
ORPHA:457485 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Aqueductal stenosis, Horseshoe kidney, Cleft palate, High palate, Vesicou... |
ORPHA:93260 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Inguinal hernia, Anal atresia, Narrow palate |
ORPHA:2063 |
Legius Syndrome |
|
High, narrow palate, High palate, Supravalvar pulmonary stenosis |
OMIM:611431 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, High palate, Hypospadias |
OMIM:614541 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema |
OMIM:163950 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part... |
ORPHA:1686 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism |
ORPHA:217346 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Microcephaly, Nephrotic syndrome, Glomerular sclero... |
OMIM:619428 |
Dystonia-Deafness Syndrome 1 |
|
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Pseudobulbar paralysis, Dysphagia |
OMIM:607371 |
Kleefstra Syndrome 1 |
|
Hypospadias, Microcephaly, Protruding tongue, Cryptorchidism, Abnormal renal morphology, Conotrun... |
OMIM:610253 |
Hydroxykynureninuria |
|
Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Edema, Lymphadenopathy |
OMIM:603552 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Cleft palate, Micropenis, Vaginal dryness |
OMIM:106260 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Inguinal hernia, Hypospadias, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, High palat... |
OMIM:619272 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc... |
OMIM:613686 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate |
OMIM:606851 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Anal atresia, Hypospadias, Microcephaly, Anencephaly, High palate, Ambiguous genit... |
ORPHA:96176 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Mediastinal l... |
ORPHA:73263 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, ... |
ORPHA:1546 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, A... |
OMIM:214100 |
Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Patent foramen ovale, Median... |
OMIM:617746 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... |
OMIM:618183 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Palpebral edema, Splenomegaly, Cervical lymphadenopathy, Vasculitis,... |
ORPHA:50918 |
Frontoocular Syndrome |
|
Atrial septal defect, High palate, Pulmonic stenosis |
OMIM:605321 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
20Q13.33 Microdeletion Syndrome |
|
Hypospadias, Decreased scrotal rugation, Abnormal cardiac ventricle morphology, Hypoplasia of the... |
ORPHA:261311 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Microcephaly, High palate, Hypoplasia of the corpus callosum, Pulmonic stenosis, Umbilical hernia... |
OMIM:616977 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Microcephaly, Hydrocephalus, Urethral stenosis, Cleft palate... |
ORPHA:261290 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Narrow palate, Wide mouth, Thick vermilion border, High palate,... |
OMIM:619435 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... |
ORPHA:648 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Sensorineural hearing impairment, Deep philtrum, P... |
ORPHA:435638 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Microcephaly, Cryptorchidism, High palate, Agenesis of corpus callosum, Renal dysplasia |
OMIM:300004 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Abnormality of the ureter, Cleft ... |
ORPHA:3378 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Dy... |
ORPHA:537 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Cryptorchidism, Renal atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:618659 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Repetitive compulsive behavior, Bruxism, Dysphagia, High palate, Wide... |
OMIM:300260 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis |
OMIM:185500 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Hypospadias |
OMIM:614613 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Thick low... |
ORPHA:10 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent sinusiti... |
OMIM:607594 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Microcephaly, High, narrow palate, Cereb... |
ORPHA:464738 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Lymphadenitis, Nonproductive cou... |
ORPHA:31204 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Charge Syndrome |
|
External genital hypoplasia, Secundum atrial septal defect, Holoprosencephaly, Atrial septal defe... |
OMIM:214800 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Abnormal repetitive mannerisms, Self-injurious behavior, High palate |
ORPHA:397612 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Ebstein anomaly of the tricuspid v... |
OMIM:608980 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias |
OMIM:616489 |
Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism... |
ORPHA:63260 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Dental malocclusion,... |
OMIM:619293 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Recurrent upper ... |
ORPHA:397596 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Bulimia, Self-biting, Downturned ... |
OMIM:300912 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Absent septum pellucidum, Microcephaly, Epispadias, Hydro... |
ORPHA:2556 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of t... |
OMIM:271520 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Bronchiectasis, Lymphadenopa... |
OMIM:618534 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Renal hypoplasia, Hypoplasia of the corpus callosum, Pulmonic stenosis, Umbilica... |
OMIM:618914 |
Progeroid Short Stature With Pigmented Nevi |
|
Bicuspid aortic valve, Hypospadias, Chordee, Aortic valve stenosis, Esophageal ulceration |
OMIM:176690 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormality of the ear, Downturned corners of mouth, Thick vermil... |
ORPHA:391372 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism |
ORPHA:561854 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, External genital hypoplas... |
ORPHA:97360 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Ivic Syndrome |
|
Tetralogy of Fallot, Rectovaginal fistula, Intestinal malrotation, Anal atresia |
OMIM:147750 |
Fusariosis |
|
Sinusitis, Lung abscess, Pneumonia, Productive cough, Abnormality of the spleen, Hypersensitivity... |
ORPHA:228119 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Microcephaly, Horseshoe kidney, High palate, Subvalvular aortic stenosis |
ORPHA:65286 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, High palate, Hypospadias |
ORPHA:98791 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Microcephaly, Cryptorchidism, Micropenis, Lissencephaly, Aortic valve sten... |
OMIM:243310 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Hypospadias, High, narrow palate, Narrow... |
OMIM:158170 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Volvulus, Abnormal... |
OMIM:617802 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Esophagitis |
ORPHA:79350 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Microcephaly, Cryptorchidism, Abnormal cardiac septu... |
OMIM:613026 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Rhizomelic Syndrome, Urbach Type |
|
Cleft palate, High palate, Pulmonic stenosis, Microcephaly |
ORPHA:3098 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Intestinal malrotation, Aqued... |
OMIM:620305 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricu... |
ORPHA:66634 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Renal hypoplasia/aplasia, Narrow palate, Macroglossia, ... |
ORPHA:870 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadis... |
OMIM:617159 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Microcephaly, Cryptorchidism |
ORPHA:96097 |
Ohdo Syndrome, Sbbys Variant |
|
Hypospadias, Microcephaly, Cryptorchidism, Dilated cardiomyopathy, Cleft palate |
OMIM:603736 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Microcephaly, Hemolytic-uremic syndrome, Cryptorchidism, Cerebr... |
OMIM:611209 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Ascending tubular aorta aneurysm, Branchial anomaly, Gray matter h... |
ORPHA:453499 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Microcephaly, Protruding tongue, Cryptorc... |
OMIM:301040 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Microcephaly, Cryptorchidism, High palate, Pulmonic stenosis, Atrial septal def... |
ORPHA:3304 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Pr... |
OMIM:147920 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Anal atresia, Progressive microcephaly, Cerebral atrophy |
ORPHA:480898 |
Iniencephaly |
|
Encephalocele, Omphalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anence... |
ORPHA:63259 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment... |
OMIM:202650 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Clitoral hypertrophy, Streak ovary, Hypospadias, Absent septum pellucidum, Ileal atr... |
OMIM:618820 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Hypospadias, Absent septum pellucidum, Abnormal cortical ... |
OMIM:236680 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Cleft palate |
OMIM:300946 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Cleft palate, High palate, Hypospadias |
ORPHA:1784 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Epistaxis, Hepatosplenomegaly |
OMIM:612840 |
Pfapa Syndrome |
|
Splenomegaly, Recurrent pharyngitis, Lymphadenopathy |
ORPHA:42642 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate |
OMIM:243440 |
Nephroblastoma |
|
Neoplasm of the lung, Hypertension, Lymphadenopathy |
ORPHA:654 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Large placenta, Horseshoe kidney, Abnormal heart morpholo... |
ORPHA:1708 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Intrauterine ... |
OMIM:617713 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Cryptorchidism, ... |
ORPHA:329224 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Ventricular septal defect, External genital hypoplasia, Precocious pube... |
OMIM:201000 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Holoprosencephaly, Atrial septal defect, Micropenis, Atrioventricu... |
ORPHA:672 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Absence of Stensen du... |
OMIM:129900 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Umbilical hernia,... |
OMIM:616028 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadeno... |
OMIM:209950 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Microcephaly, D... |
ORPHA:1596 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Cleft... |
OMIM:273395 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Microcephaly, Bilateral cryptorchidism, ... |
OMIM:300998 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Chor... |
ORPHA:96179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Microcephaly, Cryptorchidism, ... |
ORPHA:464311 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pachygyria, Imperf... |
OMIM:100300 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, R... |
OMIM:615559 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Long penis, High palate, Clitoral hypertrophy |
OMIM:262190 |
Williams Syndrome |
|
Rectal prolapse, Protruding ear, Gastroesophageal reflux, Chronic otitis media, Microdontia, Low-... |
ORPHA:904 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Dyspnea, Angioedema, Lymphadenopathy, Hypotension, Peau d'orange, Tel... |
ORPHA:79455 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Atrial septal defect, Agenesis of corpus callosum, Exaggerated median tongue furrow, ... |
OMIM:312870 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Jerky head movements, Dysphagia |
ORPHA:251282 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Microcephaly, Cerebral atrophy, Renal tubular acidosis, Abnormal cerebral white matt... |
OMIM:615471 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Megacystis, Vesicoureteral reflux, Agenesis... |
ORPHA:209905 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias |
ORPHA:2115 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Bifid scrotum, Hypospadias, Abnormal cortical gyration,... |
ORPHA:2211 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, High palate, Attention deficit hype... |
OMIM:620242 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Microcephaly, Cryptorchidism, ... |
ORPHA:464306 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Non-midline cleft lip, Cupped ear, Cleft palate, Microtia, Con... |
ORPHA:246 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:3097 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Macrogyria,... |
OMIM:614866 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Th... |
OMIM:619695 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Eosinophilia, Progressive microcephaly, Death in infancy |
OMIM:617425 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Redundant umbilical skin, Hydrocephalus, Narrow palate, Anteriorly pl... |
OMIM:123790 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Open mouth, Short philtrum |
ORPHA:228384 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor |
ORPHA:97285 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... |
ORPHA:90363 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp... |
ORPHA:509 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Kleine-Levin Syndrome |
|
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... |
ORPHA:33543 |
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 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, M... |
ORPHA:90652 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callosum, Cer... |
ORPHA:3338 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Splenomegaly, Lymphaden... |
ORPHA:167 |
Distal Deletion 9P |
|
Hypoplastic labia majora, High, narrow palate, Hypospadias, Cleft palate |
ORPHA:1642 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypospadias, Hypoplastic female external genitalia |
OMIM:177980 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Microcephaly, Cleft palate, Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, High palate, Vesicoureteral reflux, Hypospadias,... |
OMIM:122470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion border, High palate, Sh... |
OMIM:300986 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion, Lymphadenopathy |
ORPHA:29073 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Simplified gyral pattern, Reduced cerebral white matter volume |
OMIM:618253 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Renal agenesis... |
ORPHA:508498 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Cleft palate, Sel... |
ORPHA:819 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Micropenis, Patent foramen ovale, Progressive microce... |
OMIM:607143 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp... |
OMIM:602782 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Tented upper lip vermilion, Abnormal repetitive mannerisms |
OMIM:617807 |
Heme Oxygenase 1 Deficiency |
|
Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hype... |
OMIM:614034 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respi... |
OMIM:609981 |
Familial Mediterranean Fever |
|
Splenomegaly, Pleural effusion, Pleuritis, Pericarditis |
OMIM:249100 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Non-midline cleft lip, Aplasia/Hypoplasia of the earlobes, Cle... |
ORPHA:1104 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:289548 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasting, Increa... |
ORPHA:90795 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Umbilical hernia, Micropenis |
ORPHA:3134 |
Ring Chromosome 12 Syndrome |
|
Microcephaly, Secundum atrial septal defect, High, narrow palate, Cryptorchidism, Glandular hypos... |
ORPHA:1439 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ... |
OMIM:270400 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the lung, Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Respiratory insufficiency, Lymphadenopathy |
ORPHA:69077 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Hypospadias, Bifid uvula |
OMIM:164220 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnorma... |
ORPHA:1120 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... |
ORPHA:93111 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenop... |
ORPHA:228123 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Testicular torsion, Pulmonic stenosis |
ORPHA:75496 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias |
OMIM:619718 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Tracheal atresia, Submucous cleft hard palate, Gingival cleft,... |
ORPHA:2189 |
Classic Mycosis Fungoides |
|
Splenomegaly, Edema, Lymphadenopathy |
ORPHA:2584 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Hypospadias, Cerebral cortical atrophy, Abnormal corpus callosum morphology |
ORPHA:3224 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Overfriendliness, Median cleft lip, Aganglionic megacolon, Hamartoma of... |
OMIM:174300 |
White-Sutton Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... |
OMIM:616364 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ambiguous genitalia, Ventricular septal defect, Microcephaly,... |
OMIM:616777 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Cryptorchidism, Thick corpus callosum, U... |
OMIM:618846 |
Trisomy 8Q |
|
Hypoplasia of penis, Cryptorchidism, Myelomeningocele, Cleft palate, High palate, Displacement of... |
ORPHA:1752 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Thin upper lip vermilion, Hyperactivity, Short philtrum, Macrotia, Abnormal repetitive mannerisms... |
OMIM:300486 |
Three M Syndrome 1 |
|
Spina bifida occulta, Hypospadias, Decreased testicular size |
OMIM:273750 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ... |
OMIM:617053 |
Seckel Syndrome 1 |
|
Hypospadias, Microcephaly, Cryptorchidism, Large basal ganglia, Cleft palate, High palate, Pachyg... |
OMIM:210600 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Small scrotum, Ventricular septal defect, Anal stenosis, Pyloric stenosis, Bicor... |
OMIM:181450 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent respiratory infections, Lymphadenopathy |
OMIM:618495 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypospadias, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidi... |
OMIM:206900 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... |
OMIM:620369 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypospadias, Cryptorchi... |
ORPHA:163956 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third degree atrioventr... |
OMIM:619573 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Absent septum pellucidum, Focal polymicrogyria, Cryptorchidism, Hydro... |
OMIM:612651 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly |
OMIM:614473 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Everted lower lip vermilion, High palate, Short... |
ORPHA:2479 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618336 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Absent septum pellucidum, Aganglionic megacolon, Epispadi... |
ORPHA:3339 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia |
ORPHA:93259 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrh... |
ORPHA:3226 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion |
ORPHA:2260 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Renal agenesis |
ORPHA:217266 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Cleft palate, Compulsive behaviors, Attention deficit hyperactivity disorder... |
OMIM:615656 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Microcephaly, Pachygyria, Cryptorchidism, Cortical dyspla... |
ORPHA:468631 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormalit... |
ORPHA:261318 |
Erdheim-Chester Disease |
|
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swelling, Pu... |
ORPHA:35687 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormal tracheobronchial morph... |
ORPHA:1790 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy |
OMIM:150550 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidis... |
ORPHA:96121 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Abnormal cerebral white matter morphology, High palate, Hypospadias |
ORPHA:363686 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellularity, Cough |
ORPHA:391 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Intes... |
ORPHA:2308 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Cleft palate, Abnormality of the upper urinary tract |
ORPHA:2145 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Noonan Syndrome 10 |
|
Mitral stenosis, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitral regurgitation... |
OMIM:616564 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal helix morphology, ... |
ORPHA:401777 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Short stature, Growth delay, Intrauterine growth retardation, Truncus arterios... |
ORPHA:261330 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Ischemic stroke |
OMIM:182410 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Microcephaly, Submucous cleft hard palate, Cerebral atrophy, Chordee, Hypoplasia of ... |
OMIM:618891 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Prominent antihelix, Wide mouth, Inappropriate laughter, Enamel hyp... |
OMIM:615802 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Pleural effusion, Anasarca, Edema |
OMIM:254900 |
Mosaic Trisomy 1 |
|
Omphalocele, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Micropeni... |
ORPHA:1692 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Narrow palate, Mitral valve prolapse, Macroglossia, Pu... |
ORPHA:3071 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Clitoral hypertrophy, Ventricular septal defect, Hypospadias, Urethrovaginal... |
OMIM:243800 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Anal atresia, Ectopic anus, Hypospadias, Cleft palate |
ORPHA:85199 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, I... |
OMIM:600001 |
Brucellosis |
|
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Hypersplenism, Sple... |
ORPHA:1304 |
Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Splenomegaly, Abnormal lung morphology, Recurrent phary... |
ORPHA:549 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Hypospadias, Abnormal cortical gyration, Rena... |
OMIM:219000 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Horseshoe kidney, Microcephaly |
OMIM:216100 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias |
ORPHA:782 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Short stature, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Pyloric sten... |
OMIM:147791 |
Severe Congenital Nemaline Myopathy |
|
Micropenis, Hypospadias |
ORPHA:171430 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Aggressive behavior, Downturned corners of mouth, Short philtrum, Atten... |
OMIM:619121 |
Pancreatitis, Hereditary |
|
Pleural effusion |
OMIM:167800 |
Felty Syndrome |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Splenomegaly, Recurrent pharyngitis, R... |
ORPHA:47612 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, High palate, Atrial septal defect, Agenesis of corpus callosum, Paten... |
OMIM:619488 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, High, narrow palate, Hypospadias, Hypoplasia of the corpus callosum |
OMIM:618872 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, High palate, Eosinophilia, Pulmonic stenosis |
OMIM:618282 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Thin corpus callosum, Pulmonic ... |
OMIM:615280 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Ventricular septal defect, Large placenta, Galactosuria, Pulmonic s... |
OMIM:222470 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hunter-Macdonald Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Umbilical hernia |
OMIM:611962 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium |
OMIM:225500 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms, Narrow mouth |
OMIM:619317 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Microcephaly, Cryptorchidism, Cleft palate, Pulmonic stenosis, Atriove... |
OMIM:619123 |
Schnitzler Syndrome |
|
Splenomegaly, Vasculitis, Lymphadenopathy |
ORPHA:37748 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Scrub Typhus |
|
Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ventilatory defect, Hypotension,... |
ORPHA:83317 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Xe... |
ORPHA:809 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Alg12-Cdg |
|
Hypospadias, Intestinal malrotation, Cryptorchidism, Muscular ventricular septal defect, Biventri... |
ORPHA:79324 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo... |
OMIM:618619 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxam... |
OMIM:608688 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Noonan Syndrome 6 |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular... |
ORPHA:373 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Inguinal hernia, Ventricular septal defect, Abnormal pulmonar... |
ORPHA:268261 |
Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis |
OMIM:618780 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Ascites |
OMIM:615122 |
Ogden Syndrome |
|
Abnormal head movements, Everted upper lip vermilion, High, narrow palate, Low-set ears, Macrotia |
ORPHA:276432 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Submuc... |
ORPHA:2282 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora, High palate, Shawl s... |
OMIM:604314 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Complete atrioventricular canal d... |
OMIM:619343 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, G... |
ORPHA:989 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Ectopic anus, Cleft palate, Microcephaly |
ORPHA:2994 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:610733 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cryptorchidism, Hypoplastic la... |
ORPHA:2554 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cerebral atrophy, Cardiomegaly |
OMIM:620306 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
Noonan Syndrome 5 |
|
Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Diffuse cerebral atrophy, Ambiguous genitalia, Periventricular white matter hypodensities, Microc... |
ORPHA:543470 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Attention deficit hyperactivity... |
ORPHA:261197 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Polycystic kid... |
OMIM:614091 |
Baller-Gerold Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly pla... |
OMIM:218600 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Abnormal renal morphology, Cleft palate, Abnormal heart mor... |
OMIM:239300 |
Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... |
ORPHA:3093 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Cryptorchidism, Subcortical band heterotopia, Renal ... |
OMIM:615546 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Inguinal hernia, Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias,... |
OMIM:220111 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Renal agenesis, Monorchism, Renal hypoplasia/aplasia, Microcephaly, Hi... |
ORPHA:2753 |
White-Sutton Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal ... |
ORPHA:468678 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate, Primary amenorrhea, Hyp... |
OMIM:603457 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplas... |
OMIM:214110 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, High palate, Short philtrum, Attention deficit hyperactivity disorder, A... |
OMIM:618354 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Megalencephaly, Cryptorchi... |
OMIM:101200 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... |
ORPHA:457279 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Microcephaly, Epispadias... |
OMIM:615948 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Thick vermilion border, Abnormal temper tantrums |
ORPHA:530983 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Absent septum pellucidum, Microcephaly, Alobar holoprosencephaly, Aque... |
OMIM:619895 |
Sézary Syndrome |
|
Splenomegaly, Abnormal pleura morphology, Edema, Lymphadenopathy |
ORPHA:3162 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Precocious puberty, High, narrow palate, Cryptorchidism, Horseshoe kidney, Abnormal ... |
ORPHA:96182 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Dental malocclusion, Bruxism, Protruding ear, High palate,... |
OMIM:606232 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Microcephal... |
OMIM:610443 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lung morphology, Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Cleft palate, Cerebral... |
ORPHA:3474 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate... |
ORPHA:163979 |
Holoprosencephaly |
|
Encephalocele, Short neck, Abnormality of neuronal migration, Spinal dysraphism, Branchial anomal... |
ORPHA:2162 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Ren... |
ORPHA:93271 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mult... |
ORPHA:818 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363958 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Spina bifida occulta, Hypospadias |
ORPHA:1786 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Ventricular septal defect, Abnormality of the kidney, Microcephaly, A... |
OMIM:235730 |
Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Edema, Lymphadenopathy |
ORPHA:2483 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Cerebral at... |
OMIM:269150 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Omphalocele,... |
ORPHA:2729 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Cleft palate, Atrial septal... |
OMIM:300712 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the lung, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy |
ORPHA:83469 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Umbilical hernia, Micropenis |
OMIM:312830 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis |
OMIM:614900 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Cleft palate, Glossoptosis, Low-set ears, Ankyloglossia |
OMIM:618021 |
Huntington Disease-Like 1 |
|
Restlessness, Jerky head movements, Abnormal head movements |
ORPHA:157941 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Portal hypertension, Splenomegaly, Congestive heart failure, Hepatosplenomegal... |
ORPHA:171 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Microcephaly, Cryptorchidism, Atrial septal defect, ... |
ORPHA:85201 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Microcephaly, Lacticaciduria, Conc... |
OMIM:252010 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Microcephaly, Septate vagina, Cryptorchidis... |
OMIM:300166 |
Faciocardiorenal Syndrome |
|
Cleft palate, Protruding ear, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypospadias, Micropenis, Bifid u... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Microcephaly |
OMIM:615272 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Pulmonic stenosis |
OMIM:613706 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Rhabdomyolysis, Dilated car... |
OMIM:614921 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries, Macroglossia... |
ORPHA:528 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Death in childhood, Neonatal... |
OMIM:609313 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, High, narrow palate, Anteriorly placed anus, Abnormal ovarian morphology, Ves... |
ORPHA:95699 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Cardiac Valvular Dysplasia 2 |
|
Dysplastic aortic valve, Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis |
OMIM:620067 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Sho... |
OMIM:619575 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Wheezing, Lymphadenopathy, Hypotension, P... |
ORPHA:79456 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Microcephaly, Cleft palate, Hypoplasia of the corpus callos... |
OMIM:614207 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Dysphagia |
ORPHA:240103 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Hypospadias, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, ... |
OMIM:102500 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Clitoral hypert... |
OMIM:613803 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Cleft pal... |
OMIM:151050 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Recurrent respiratory infections, Lymphadenopathy |
OMIM:619375 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Simplified gyral pattern, H... |
ORPHA:1465 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno... |
OMIM:619657 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Asthma, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Mitral regurgitation |
OMIM:619750 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, A... |
ORPHA:1507 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Mitral stenosis, Hypospadias, Intestinal malrotation,... |
ORPHA:955 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
ORPHA:158687 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Aortic Aneurysm, Familial Thoracic 12 |
|
High palate, Bicuspid aortic valve |
OMIM:619825 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Growth delay, Gray matter heterotopia, Branchial anomaly, Cystic h... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Growth delay, Gray matter heterotopia, Branchial anomaly, Cystic h... |
ORPHA:352665 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Intestinal obstruction, Primary testicular failure, Renal insufficiency, Protei... |
ORPHA:85450 |
Ivic Syndrome |
|
Rectovaginal fistula, Anal atresia |
ORPHA:2307 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353281 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve ... |
ORPHA:371428 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Anteriorly placed anus, Agenesi... |
OMIM:618748 |
Pallister-Killian Syndrome |
|
Small scrotum, Renal cyst, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Hypospadias... |
OMIM:601803 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Microcephaly, Cleft palate, Hydronephrosis, An... |
OMIM:251260 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Hypospadias, Abnormal renal collecting system morpho... |
ORPHA:17 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Streak ovary, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nep... |
ORPHA:798 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Downturned corners of mouth, Thin vermilion border, Compulsive behaviors, Atten... |
ORPHA:1001 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Cerebral atrophy, Pulmonic stenosis |
OMIM:614300 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Narrow palate, Mitral valve prolapse, Hypoplasia of the corpus callosum, R... |
ORPHA:555877 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:439822 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, High palate, Atrial septal defect, Pachygyria, Agenesis of... |
OMIM:607872 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Hypospadias, Absent septum pellucidum, Meningocele,... |
ORPHA:397715 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Cryptorchidism, Aplasia/Hypopla... |
ORPHA:568 |
Cinca Syndrome |
|
Lymphedema, Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis, Protruding tongue |
OMIM:614325 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Tongue thrusting, Protruding ear, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem... |
ORPHA:544482 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Microcephaly, Cleft palate, Ectopic anus, High palate |
ORPHA:251038 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Abnormal cerebral white matter morphology, Macroglossia, High palate, Hypo... |
OMIM:614501 |
3M Syndrome |
|
Hypospadias, Decreased fertility |
ORPHA:2616 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Hydr... |
ORPHA:2306 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Microcephaly, Anorectal anomaly, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
Dubowitz Syndrome |
|
Anal stenosis, Hypospadias, Microcephaly, Malabsorption, Cryptorchidism, Hydrocephalus, Rectal pr... |
ORPHA:235 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Abnormal caudate nucleus... |
ORPHA:293725 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, Absent septum pellucidum, External genit... |
ORPHA:2658 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Pachygyria, High, narrow palate, Hydrocepha... |
ORPHA:3472 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Cryptorchi... |
OMIM:130720 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Cleft palate, Seco... |
OMIM:610759 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Immunodeficiency 7 |
|
Splenomegaly, Recurrent respiratory infections, Lymphadenopathy |
OMIM:615387 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Carey-Fineman-Ziter Syndrome |
|
Cerebral calcification, Aplasia/Hypoplasia of the tongue, Microcephaly, Glandular hypospadias, Cl... |
ORPHA:1358 |
Monosomy 13Q34 |
|
Microcephaly, Fetal pyelectasis, Pulmonic stenosis, Common atrium, Agenesis of corpus callosum |
ORPHA:96168 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Respiratory failure, Lymphadenopathy |
ORPHA:83313 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Pulmonic stenosis, Atri... |
OMIM:608149 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Partial agenesis of the corpus callosum, High palate, Atrial septal defect, Spina... |
OMIM:135900 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Double outlet right ventricle, Cerebral atrophy, Supravalvar pulmonary stenosis, ... |
OMIM:618164 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney, Mic... |
ORPHA:1606 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Microcephaly, Multiple muscular ventri... |
OMIM:615508 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red... |
OMIM:268800 |
C Syndrome |
|
Omphalocele, Ventricular septal defect, Microcephaly, Cryptorchidism, Renal cortical cysts, High ... |
OMIM:211750 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Edema, Lymphadenopathy |
OMIM:619183 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Microcephaly, Abnormal heart morphology,... |
ORPHA:487796 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:620331 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Microcephaly, Abnormal cerebr... |
OMIM:619268 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia,... |
OMIM:309800 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Microcephaly, Cryptorchidism, Anteriorly placed anus, High palate, Hypoplasia of... |
OMIM:618653 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Splenomegaly, Recurrent pharyngitis, Vasculitis, Lymphadenopathy |
OMIM:308240 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Posteriorly rotated ears, Carious teeth, Stereoty... |
OMIM:619229 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Hypoplastic labia minora, Cleft palate, Cerebral atrophy, Hypoplastic labia majora, ... |
OMIM:619124 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Cryptorchidism, Chordee, Hypoplasia of the corpus callosum, Cerebral white matter hy... |
ORPHA:477993 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Dyspnea, Lympha... |
ORPHA:160 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Aplasia/... |
ORPHA:564 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Aggressive behavior, Eruption failure, High palate... |
ORPHA:476126 |
Vici Syndrome |
|
Schizencephaly, Microcephaly, Dilated cardiomyopathy, Cleft palate, Cardiomyopathy, High palate, ... |
OMIM:242840 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri... |
OMIM:300661 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
Kabuki Syndrome 2 |
|
Microcephaly, Horseshoe kidney, Cleft palate, High palate, Pulmonic stenosis, Atrial septal defec... |
OMIM:300867 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Cleft palate, Clitoral hypertrophy |
ORPHA:96181 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Intestinal malrotation, Dental crowding, Ging... |
OMIM:615485 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Microcephaly, Porenc... |
OMIM:117650 |
Pitt-Hopkins Syndrome |
|
Deep philtrum, Cupped ear, Wide mouth, Self-injurious behavior, Short philtrum, Widely spaced tee... |
OMIM:610954 |
Donohue Syndrome |
|
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg... |
ORPHA:98850 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Re... |
ORPHA:911 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hypospadias, Micropenis |
OMIM:613673 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Ventricular septal defect, Diastasis... |
OMIM:261540 |
Noonan Syndrome 14 |
|
Cryptorchidism, High, narrow palate, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardi... |
OMIM:619745 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Hypertrophic cardiomy... |
OMIM:605275 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices, Attention defici... |
OMIM:300352 |
Griscelli Syndrome |
|
Splenomegaly, Pedal edema, Lymphadenopathy, Bone marrow hypocellularity, Ascites |
ORPHA:381 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Cor triatriatum, Inguinal hernia, Microcephaly, Secundum atri... |
OMIM:612541 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Large basal gangli... |
ORPHA:261537 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Situs inversus totalis, Ureteral atresia, Stage 5 ch... |
OMIM:208540 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Megalencephaly, Lipomyelome... |
OMIM:601707 |
Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Clitoral hypertrophy |
OMIM:606003 |
Recombinant 8 Syndrome |
|
Small scrotum, Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Cleft palate... |
ORPHA:96167 |
Acquired Von Willebrand Syndrome |
|
Hematuria, Aortic valve stenosis, Pulmonic stenosis, Gastrointestinal angiodysplasia |
ORPHA:99147 |
Poland Syndrome |
|
Duplicated collecting system, Encephalocele, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia,... |
ORPHA:2911 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Stroke-like episode, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Cleft palate, An... |
OMIM:616894 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Varicocele, ... |
OMIM:136140 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Velopharyngeal insufficiency, Cleft palate, Hypoplastic labia majora, Bifid uvula |
OMIM:129400 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Ascites, Recurrent respiratory infections, Lymphadenopathy |
OMIM:257200 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Papillary cystadenoma of the ... |
OMIM:180849 |
Craniofrontonasal Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Hypoplasia of the corpus callosum, Shawl scrotum, Umbi... |
OMIM:304110 |
Hartsfield Syndrome |
|
Hypospadias, Alobar holoprosencephaly, Microcephaly, Cryptorchidism, Cleft palate, Lobar holopros... |
OMIM:615465 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal ... |
OMIM:308205 |
Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney, Microcephaly, Cryptorchi... |
ORPHA:280 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Abnormal repetitive mannerisms, Thick lower lip vermilion, Gingival ove... |
OMIM:619297 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, High palate, Pulmonic stenosis,... |
OMIM:609942 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Diastasis recti, Microcephaly, High, narrow palate... |
ORPHA:488632 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... |
OMIM:608013 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal stricture, Abnormal myocardi... |
ORPHA:36426 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, High, narrow ... |
OMIM:614816 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
High palate, Hypospadias |
OMIM:609944 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Exaggerated cupid's bow, Narrow mouth, Sensorineural hea... |
OMIM:619512 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen o... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen o... |
ORPHA:353277 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Carious teeth, Alveolar ridge overgrowth, Cleft palate, Microdontia of ... |
ORPHA:177907 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, High palate, ... |
OMIM:620083 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen... |
OMIM:603909 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Large basal gangli... |
ORPHA:2152 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculitis, Bronchiectasis, Lymphadeno... |
ORPHA:1572 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Dyspnea, Angioedema, Myocarditis, Lymphadenopathy, Interstitial pneumonitis, Cough |
ORPHA:139402 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc... |
OMIM:604292 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Epispadias, High, narrow palate, Cry... |
ORPHA:3107 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Hypospadias, Anal atresia |
OMIM:180500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Lymphadenopathy, Recu... |
OMIM:616100 |
Diamond-Blackfan Anemia |
|
Renal agenesis, Ventricular septal defect, Hypospadias, Microcephaly, Cleft soft palate, Horsesho... |
ORPHA:124 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... |
ORPHA:158684 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th... |
ORPHA:2044 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypogonadotropic hypogonadism, Submucous cleft s... |
ORPHA:3455 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal cortical gyration, Abnormality of the abdominal wall, Cleft palate, Hydronephrosis, Card... |
ORPHA:480880 |
3Mc Syndrome 2 |
|
Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate |
OMIM:265050 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... |
ORPHA:99921 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Microcephaly, Cryptorchidism, Horseshoe kidney, Clit... |
OMIM:609945 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cere... |
ORPHA:1340 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Renovascular hypertension |
OMIM:602531 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Furrowed tongue, Nep... |
ORPHA:769 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Death in infancy, Small scrotum, Bicuspid aortic valve, Microcephaly, Protr... |
OMIM:612289 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased... |
OMIM:608836 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Cyclic Neutropenia |
|
Sinusitis, Respiratory tract infection, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphade... |
ORPHA:2686 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... |
OMIM:245600 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Solitary Rectal Ulcer Syndrome |
|
Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Aggressive behavior, Cleft lip, Cleft palate, Thick vermilion border, E... |
OMIM:301066 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Stroke, Cardiomegaly |
OMIM:603903 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Microcephaly, Situs inversus totalis, Cleft palate, Hydrocele testis, Bifid uvula, H... |
ORPHA:1449 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Lymphadenopathy |
ORPHA:1332 |
Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hypospadias, Absent septum pellucidum, Microcephaly, Precocious pubert... |
OMIM:194190 |
Marshall-Smith Syndrome |
|
Omphalocele, Ventricular septal defect, Absent septum pellucidum, Bilateral cryptorchidism, Pylor... |
OMIM:602535 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon... |
OMIM:609192 |
Leishmaniasis |
|
Splenomegaly, Rhinitis, Lymphadenopathy |
ORPHA:507 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus, Submucous cleft hard palate, Aplasia/Hypoplasia of the corpus callosum, Hydronephr... |
OMIM:115150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Inguinal hernia, Ventricular septal defect, Cryptorchidism, High pa... |
OMIM:607721 |
Legius Syndrome |
|
Nephrolithiasis, Mitral valve prolapse, Ovarian neoplasm, Male urethral meatus stenosis, Pulmonic... |
ORPHA:137605 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... |
ORPHA:508488 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Microcephaly, Hypoplastic labia majora, High p... |
OMIM:244450 |
Omenn Syndrome |
|
Splenomegaly, Pneumonia, Edema, Lymphadenopathy |
ORPHA:39041 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft palat... |
ORPHA:1555 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormal lung morphology, Abnorma... |
ORPHA:2035 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Enlarged labia minora, Microcephaly, Cryptorchidism, Hydr... |
OMIM:268300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria |
ORPHA:2239 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Inguinal hernia, Microcephaly, Pyloric stenosis, Dilatation o... |
ORPHA:90349 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Wide mouth, Fusion of midd... |
OMIM:157800 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Portal hypertension, Absence of lymph node germinal center, Hep... |
ORPHA:79124 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Dysphagia, High palate, Low-set ear... |
ORPHA:319182 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Microcephaly, Horseshoe kidney, Abnormal heart morphology... |
ORPHA:444077 |
Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Hamartoma of tongue, Microcephaly, Bilateral cryptorchidism, Epispadia... |
ORPHA:434179 |
Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcera... |
OMIM:617137 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Narrow mouth, Cupped ear, Thic... |
OMIM:309590 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Repetitive compulsive behavior, Abnormality of the gingiva, Absent c... |
ORPHA:513456 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr... |
OMIM:618143 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:457351 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Lymphadenopathy, Hematochezia, Subconj... |
OMIM:617718 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Microcephaly, Cleft palate, Macroglossia, Pulmonic ste... |
OMIM:614609 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Submucous cleft hard palate, Hydropic placenta, Stillbirth, Sh... |
OMIM:275210 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp... |
OMIM:619841 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Abnormal repetitive mannerisms, Deep philtrum... |
OMIM:617330 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Palpit... |
ORPHA:100078 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherr... |
OMIM:230000 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Macrotia, Widely spaced teeth, Dysphagia |
ORPHA:496641 |
Bent Bone Dysplasia Syndrome 1 |
|
Clitoral hypertrophy |
OMIM:614592 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Spinal dysra... |
OMIM:114290 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Unilateral cleft palate, Microcephaly, Absent external genitalia, Submucous cl... |
ORPHA:1299 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Vaginal atresia, Anteriorly placed anus |
OMIM:248450 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Dilated cardiomyopathy, Ankyloglossia, A... |
ORPHA:89842 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Leprechaunism |
|
Clitoral hypertrophy, Enlarged ovaries, Overgrowth of external genitalia, Microcephaly, Rectal pr... |
ORPHA:508 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Generalized lymphadenopathy, Pneumonia, Splenomegaly, Asthma, R... |
OMIM:614700 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements |
OMIM:245348 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate, High palate, Umbilical hernia |
OMIM:265000 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Megalencephaly, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormali... |
ORPHA:3063 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Microcephaly, Cryptorchidism, Dilatation... |
ORPHA:459070 |
Brittle Cornea Syndrome |
|
Cleft palate, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Penile hypospadias |
ORPHA:73230 |
Shigellosis |
|
Hemolytic-uremic syndrome, Myocarditis, Intestinal perforation, Urethritis, Ulcerative colitis, P... |
ORPHA:810 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Inguinal hernia, Ventricular septal defect... |
OMIM:619991 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Splenomegaly, Mediastinal lymphadenopathy, Bronchiolitis obli... |
OMIM:619802 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Short stature, Natal tooth |
OMIM:620186 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Posteriorly rotated ears, Hiatus hernia, Aggressive behavior, Narrow mo... |
OMIM:614756 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Ren... |
ORPHA:495875 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Microcephaly, High,... |
OMIM:619475 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Malabsorption |
ORPHA:213 |
Weill-Marchesani Syndrome 1 |
|
Narrow palate, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:277600 |
Monosomy 9P |
|
Hypospadias, Microcephaly, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureter... |
ORPHA:261112 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... |
ORPHA:391665 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morp... |
OMIM:134780 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Microcephaly, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Hor... |
OMIM:305000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Hypospadias |
OMIM:210720 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Lymphadeno... |
ORPHA:436159 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Vasculitis, Lymphadenopathy |
OMIM:617099 |
6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, High, narrow palate, Abnormal cerebral white matter morphology, Hypoplasia... |
ORPHA:75857 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Syndromic Diarrhea |
|
Villous atrophy, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Re... |
ORPHA:84064 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal de... |
OMIM:194050 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Anteriorly placed anus, High... |
OMIM:211380 |
Meier-Gorlin Syndrome 2 |
|
Hypoplastic labia majora, Clitoral hypertrophy, Labial hypoplasia |
OMIM:613800 |
Sotos Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Atrial septal defect, Cavum septum pellucidum, Hypos... |
ORPHA:821 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Microcephaly, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucou... |
OMIM:619325 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Lymphadenopathy |
ORPHA:343 |
Atelis Syndrome 2 |
|
Microcephaly, High palate, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... |
ORPHA:363700 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Lymphadenopathy, Exertional dyspnea |
ORPHA:520 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Dubowitz Syndrome |
|
Inguinal hernia, Hypospadias, Microcephaly, Cryptorchidism, Velopharyngeal insufficiency, Submuco... |
OMIM:223370 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Growth delay, Macroglossia... |
OMIM:252500 |
Huntington Disease-Like 3 |
|
Abnormal head movements |
ORPHA:157946 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Large placenta, Submucous cleft hard palate, Tra... |
ORPHA:1662 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Pneumonia, Lymphadenopathy |
OMIM:603554 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Periodontitis, Compulsive behaviors, ... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Micropenis, Hypospadias |
OMIM:619479 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Recurrent respiratory infections, Lymphadenopathy |
ORPHA:100026 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Downturned corners of m... |
ORPHA:369837 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Cortical dysplasia, Polymicrogyria, Pulmonic stenosis |
OMIM:618343 |
Rett Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Oral leukoplakia |
OMIM:173650 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly |
ORPHA:2463 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... |
ORPHA:1896 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ... |
ORPHA:728 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Pneumonia, Lymphadenopathy |
ORPHA:169090 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:228308 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Pedal edema, Lymphadenopathy, Asci... |
ORPHA:342 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Stillbirth, ... |
OMIM:304120 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Dilated cardiomyopathy... |
ORPHA:79408 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Hypergonadotropic hypogonadism, Renal agenesis, E... |
OMIM:227650 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failure, Lymphadenopathy, H... |
OMIM:615895 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Cleft palate, Downturned cor... |
OMIM:301044 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of the corpus ... |
OMIM:616734 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement... |
OMIM:300855 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Absent septum pellucidum, Pre... |
ORPHA:438213 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... |
ORPHA:580 |
Osteoglophonic Dysplasia |
|
Cryptorchidism, Chordee, High palate, Hypospadias |
OMIM:166250 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co... |
ORPHA:97297 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly, Pulmonar... |
OMIM:606367 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Prominent umbilicus, Labial hypertrophy, Nephrolithiasis, Ventricular septal hypertrophy, Polycys... |
OMIM:269700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Nail-biting, Posteriorly rotated ears, Aggressive behavior, Hair-pullin... |
OMIM:620330 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Clitoral hypertrophy |
ORPHA:2707 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
High palate, Bladder exstrophy, Hypospadias, Microcephaly |
OMIM:210730 |
Arboleda-Tham Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Intestinal malrotation, Anteverted ears, Abno... |
OMIM:616268 |
Loeys-Dietz Syndrome 2 |
|
Inguinal hernia, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus... |
OMIM:610168 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the lung, Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, High palate, Thick vermilion border, Attention deficit hyperactivity disorder, A... |
OMIM:619005 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Prominent umbilicus, Labial hypertrophy, Nephrolithiasis, Polycystic ovaries, Cardiomyopathy, Umb... |
OMIM:608594 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements |
ORPHA:247815 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Hypoxemia, Recurrent lower... |
OMIM:308230 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Narrow palate, Cleft palate, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle |
OMIM:618223 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Narrow palate, High palate, Pulmonic stenosis, Umbilical hernia, Aorti... |
OMIM:608328 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Abnormal left ventricular outflow tract morpho... |
ORPHA:402075 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Xerostomia, Ankyloglossia, Oral leukop... |
ORPHA:2907 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Umbilical hernia, Ab... |
ORPHA:581 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Cryptorchidism, High palate, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:617506 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Anal atresia |
ORPHA:3164 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Cerebral atrophy... |
OMIM:218040 |
Microsporidiosis |
|
Glossitis, Myocarditis, Prostatitis, Urethritis, Abnormal endometrium morphology, Endocarditis, A... |
ORPHA:2552 |
Sandifer Syndrome |
|
Abnormal head movements, Esophagitis, Hiatus hernia |
ORPHA:71272 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... |
ORPHA:99827 |
Branchiooculofacial Syndrome |
|
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... |
OMIM:113620 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Anal atresia |
OMIM:182210 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Calcification of the aorta, H... |
ORPHA:51 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Dysphagia, Micro... |
OMIM:619777 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula |
ORPHA:247262 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Pneum... |
OMIM:600802 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Developmental And Epileptic Encephalopathy 2 |
|
Thick lower lip vermilion, Abnormal repetitive mannerisms |
OMIM:300672 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, Inguinal hernia, Cleft palate, Abnormal heart morphology, High palate, Pulmonic... |
ORPHA:284984 |
Heart Block, Congenital |
|
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node |
OMIM:234700 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Repetitive compulsive behavior, Self-biting, Abnormal repetitive manner... |
ORPHA:522077 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Intracranial hemorrhage, Growth delay, Bilateral polymicrogyria... |
OMIM:613406 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Recurrent respiratory infections, Lymphadenopathy |
ORPHA:52417 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Splenomegaly, Sinusitis, Lymphadenopathy |
OMIM:617591 |
Tibial Hemimelia |
|
Hypospadias, Cryptorchidism, Myelomeningocele, Cleft palate, Ambiguous genitalia |
ORPHA:93322 |
Meier-Gorlin Syndrome 1 |
|
Cryptorchidism, Hypoplastic labia minora, Cleft palate, Hypoplastic labia majora, High palate, Sh... |
OMIM:224690 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, High palate, Bicuspid aortic valve |
OMIM:617168 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Periorbital edema, Splenomegaly, Recurrent pharyngitis, Vasculitis, Lymphadenopathy... |
ORPHA:32960 |
Cartilage-Hair Hypoplasia |
|
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption |
OMIM:250250 |
Aregenerative Anemia |
|
Dyspnea, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Branc... |
OMIM:164210 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
White-Kernohan Syndrome |
|
Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Anteriorly placed anus, Rectovaginal f... |
OMIM:619426 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Inguinal hernia, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Hypogonadism, Pul... |
ORPHA:536471 |
Vascular Ehlers-Danlos Syndrome |
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Inguinal hernia, Hypospadias, Abnormal heart valve morphology, High, narrow palate, Cryptorchidis... |
ORPHA:286 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Thin upper lip vermilion, Sensorineural hearing impairment, Thick lower lip vermilion, Protruding... |
OMIM:612474 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hi... |
OMIM:309580 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility |
OMIM:614935 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy |
OMIM:233710 |
17Q24.2 Microdeletion Syndrome |
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Vesicoureteral reflux, Pulmonic stenosis |
ORPHA:529962 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... |
OMIM:130650 |
Wiedemann-Rautenstrauch Syndrome |
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Hypospadias, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Long penis, Agenesis o... |
OMIM:264090 |
Histiocytoid Cardiomyopathy |
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Stroke-like episode, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Acute Generalized Exanthematous Pustulosis |
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Facial edema, Dyspnea, Lymphadenopathy |
ORPHA:293173 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Uterine prolapse, Inguinal hernia, Bicuspid aortic valve, Eosinophilic i... |
OMIM:613795 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy |
OMIM:233690 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Neurofibromatosis-Noonan Syndrome |
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Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
Pancreatoblastoma |
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Abnormal lymph node morphology |
ORPHA:677 |
Cowden Syndrome |
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Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... |
ORPHA:201 |
Oculotrichoanal Syndrome |
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Anteriorly placed anus, Anal stenosis |
ORPHA:2717 |
Norrie Disease |
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Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... |
ORPHA:649 |
Focal Dermal Hypoplasia |
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Omphalocele, Ureteral duplication, Inguinal hernia, Intestinal malrotation, Diastasis recti, Micr... |
OMIM:305600 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... |
ORPHA:51608 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Aplasia of the thymus, Pneumonia, Lymphadenopathy, Recurrent streptococcus pneumoniae ... |
ORPHA:83471 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... |
ORPHA:116 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Narrow mouth, Gingival overgrowth, Long philtrum, Open mouth, Abnormal repetitive mannerisms |
ORPHA:508533 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Kbg Syndrome |
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Epispadias, Cryptorchidism |
OMIM:148050 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... |
OMIM:143095 |
Roberts Syndrome |
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Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Clitoral hype... |
ORPHA:3103 |
Singleton-Merten Syndrome 1 |
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Recurrent respiratory infections, Pleural effusion, Aortic valve stenosis, Congestive heart failure |
OMIM:182250 |
Abetalipoproteinemia |
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Hepatomegaly, Myopathy, Distal lower limb muscle weakness, Cardiomegaly |
ORPHA:14 |
C Syndrome |
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Omphalocele, Death in infancy, Multicystic kidney dysplasia, Female pseudohermaphroditism, Microc... |
ORPHA:1308 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Microcephaly, Pachygyria, Pyloric stenosis, Cryptorchidis... |
OMIM:216340 |
Niemann-Pick Disease, Type C2 |
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Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Thick lower lip verm... |
OMIM:259050 |
Kindler Epidermolysis Bullosa |
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Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ... |
ORPHA:2908 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Anal stenosis |
OMIM:620029 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Hepatomegaly, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... |
OMIM:256040 |
Keutel Syndrome |
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Miscarriage, Cerebral calcification, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Chikungunya |
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Epistaxis, Facial edema, Raynaud phenomenon, Cervical lymphadenopathy, Pedal edema, Lymphadenopat... |
ORPHA:324625 |
Hyper-Igd Syndrome |
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Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Bloom Syndrome |
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Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Esophageal... |
ORPHA:125 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Cystinosis, Nephropathic |
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Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic ... |
OMIM:219800 |
Fgfr2-Related Bent Bone Dysplasia |
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Clitoral hypertrophy |
ORPHA:313855 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, Lymphadenopathy... |
ORPHA:667 |
Ablepharon-Macrostomia Syndrome |
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Ventral hernia, Omphalocele, Anteriorly placed anus, Hypoplastic labia majora, Ambiguous genitali... |
OMIM:200110 |
17Q11 Microdeletion Syndrome |
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Gastrointestinal stroma tumor, Precocious puberty, Renovascular hypertension, Abnormal heart morp... |
ORPHA:97685 |
Blau Syndrome |
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Pericarditis, Dyspnea, Splenomegaly, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Joint ... |
ORPHA:90340 |
Rothmund-Thomson Syndrome, Type 2 |
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Anteriorly placed anus, Cryptorchidism, Hypogonadism, High palate |
OMIM:268400 |
Igg4-Related Submandibular Gland Disease |
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Facial edema, Periorbital edema, Xerostomia, Lymphadenopathy |
ORPHA:449432 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Dysuria, Intestinal perforation, Moderate albuminuria, Xerostomia, Ren... |
ORPHA:95455 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Volvulus, Abnormal repetitive manner... |
OMIM:616682 |
Sponastrime Dysplasia |
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Precocious puberty, Hypospadias |
ORPHA:93357 |
Immunodeficiency 82 With Systemic Inflammation |
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Pneumonia, Bronchitis, Follicular hyperplasia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Joi... |
OMIM:619381 |
Cystic Fibrosis |
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Male infertility, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Steatorrhea |
OMIM:219700 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Myocardial infarction, Neoplasm of the thymus, Small cell lung carcinoma, Pedal edema, Abnormal l... |
ORPHA:99889 |
Nmda Receptor Encephalitis |
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Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Renal agenesis, Coronal hypospadias, Xerostomia, Nephrosclerosis, Aplasi... |
OMIM:149730 |
Lowe Oculocerebrorenal Syndrome |
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Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |