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Gene: Efnb2 MGI:105097

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ephrin B2
Synonyms:
ELF-2,  Epl5,  LERK-5,  NLERK-1,  Htk-L,  Eplg5,  Lerk5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Efnb2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Efnb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal heart valve morphology, Cryptorchidism, Cleft palate, Hypogonadism, Pul... ORPHA:536471
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Hypospadias, Abnormal heart valve morphology, High, narrow palate, Cryptorchidis... ORPHA:286
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Sensorineural hearing impairment, Thick lower lip vermilion, Protruding... OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hi... OMIM:309580
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy OMIM:233710
17Q24.2 Microdeletion Syndrome
Vesicoureteral reflux, Pulmonic stenosis ORPHA:529962
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Long penis, Agenesis o... OMIM:264090
Histiocytoid Cardiomyopathy
Stroke-like episode, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Acute Generalized Exanthematous Pustulosis
Facial edema, Dyspnea, Lymphadenopathy ORPHA:293173
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Uterine prolapse, Inguinal hernia, Bicuspid aortic valve, Eosinophilic i... OMIM:613795
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy OMIM:233690
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis OMIM:601321
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... ORPHA:201
Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis ORPHA:2717
Norrie Disease
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... ORPHA:649
Focal Dermal Hypoplasia
Omphalocele, Ureteral duplication, Inguinal hernia, Intestinal malrotation, Diastasis recti, Micr... OMIM:305600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Lymphadenopathy, Recurrent streptococcus pneumoniae ... ORPHA:83471
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... ORPHA:116
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow mouth, Gingival overgrowth, Long philtrum, Open mouth, Abnormal repetitive mannerisms ORPHA:508533
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Kbg Syndrome
Epispadias, Cryptorchidism OMIM:148050
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... OMIM:143095
Roberts Syndrome
Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Clitoral hype... ORPHA:3103
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Pleural effusion, Aortic valve stenosis, Congestive heart failure OMIM:182250
Abetalipoproteinemia
Hepatomegaly, Myopathy, Distal lower limb muscle weakness, Cardiomegaly ORPHA:14
C Syndrome
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Female pseudohermaphroditism, Microc... ORPHA:1308
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Pachygyria, Pyloric stenosis, Cryptorchidis... OMIM:216340
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Thick lower lip verm... OMIM:259050
Kindler Epidermolysis Bullosa
Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ... ORPHA:2908
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Anal stenosis OMIM:620029
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... OMIM:256040
Keutel Syndrome
Miscarriage, Cerebral calcification, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Chikungunya
Epistaxis, Facial edema, Raynaud phenomenon, Cervical lymphadenopathy, Pedal edema, Lymphadenopat... ORPHA:324625
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Esophageal... ORPHA:125
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... ORPHA:3404
Cystinosis, Nephropathic
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic ... OMIM:219800
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy ORPHA:313855
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, Lymphadenopathy... ORPHA:667
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Anteriorly placed anus, Hypoplastic labia majora, Ambiguous genitali... OMIM:200110
17Q11 Microdeletion Syndrome
Gastrointestinal stroma tumor, Precocious puberty, Renovascular hypertension, Abnormal heart morp... ORPHA:97685
Blau Syndrome
Pericarditis, Dyspnea, Splenomegaly, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Joint ... ORPHA:90340
Rothmund-Thomson Syndrome, Type 2
Anteriorly placed anus, Cryptorchidism, Hypogonadism, High palate OMIM:268400
Igg4-Related Submandibular Gland Disease
Facial edema, Periorbital edema, Xerostomia, Lymphadenopathy ORPHA:449432
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Intestinal perforation, Moderate albuminuria, Xerostomia, Ren... ORPHA:95455
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Volvulus, Abnormal repetitive manner... OMIM:616682
Sponastrime Dysplasia
Precocious puberty, Hypospadias ORPHA:93357
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchitis, Follicular hyperplasia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Joi... OMIM:619381
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Steatorrhea OMIM:219700
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Neoplasm of the thymus, Small cell lung carcinoma, Pedal edema, Abnormal l... ORPHA:99889
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Renal agenesis, Coronal hypospadias, Xerostomia, Nephrosclerosis, Aplasi... OMIM:149730
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Efnb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Efnb2.

No publications found that use IMPC mice or data for Efnb2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Efnb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Efnb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Efnb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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