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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
Micropenis, Ambiguous genitalia, Hypospadias ORPHA:95707
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Respiratory distre... OMIM:617300
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, C... OMIM:615542
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d... ORPHA:50251
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
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
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
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 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Recurrent respiratory infections, Chylous ascites, Edema, Polyhydramni... OMIM:265300
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism, Hypospadias ORPHA:3176
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Non-Syndromic Anorectal Malformation
Rectal fistula, Hydrocolpos, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningo... ORPHA:557
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Bifid scrotum OMIM:264600
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Cough, Follicular hyperplasia, Mediastinal lymphadenopathy, Nodular pattern on pulmonary... ORPHA:60026
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Follicular Lymphoma
Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly ORPHA:545
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Ethanolaminosis
Cardiomegaly OMIM:227150
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Cryptorchidism, Miscarriage, Stage 5 chronic kidney disease, Extern... OMIM:613390
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Hydrops fetalis, Cough, Pulmonic ... ORPHA:2414
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Pericardial effusion ORPHA:48686
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
46,Xx Sex Reversal 4
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... OMIM:617480
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Anus, Imperforate
Anal atresia, Ectopic anus, Hypospadias OMIM:301800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Squamous Cell Carcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99977
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Pulmonary fi... OMIM:612387
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Cryptorchidism, Tetralogy of Fallot, Hypoplasia of penis, Hypospadias ORPHA:1381
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Hypogona... OMIM:614840
Delpire-Mcneill Syndrome
Dysphagia, Bilateral sensorineural hearing impairment, Tracheoesophageal fistula OMIM:619083
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Prune Belly Syndrome
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Anal atresia, Apla... ORPHA:2970
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pericardial ... ORPHA:411703
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Edema, Polyhydramnios, Periorbital edema, Facial edema, Genital edema,... OMIM:616843
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... OMIM:604169
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Vaginal fistula, Horseshoe kidney, Bicuspid aortic valve, Microcephaly OMIM:619318
Xk Aprosencephaly Syndrome
Anal atresia, Atrial septal defect, Ventricular septal defect, Abnormal external genitalia, Micro... ORPHA:3469
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Te... OMIM:220210
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Arrhythmia, Capillary leak, Lymphedema, Pericardial ef... ORPHA:1041
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... OMIM:612158
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
46,Xy Sex Reversal 6
Dysgerminoma, Gonadoblastoma, Clitoral hypertrophy, Sex reversal, Chordee, Gonadal dysgenesis, Hy... OMIM:613762
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
16P11.2P12.2 Microduplication Syndrome
Cleft palate, Hypospadias ORPHA:261204
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Ch... ORPHA:538
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Cat-Eye Syndrome (Type I)
Anal atresia, Abnormal heart morphology DECIPHER:42
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Obstructive azoospermia, Spermatocele, Male infertility OMIM:301060
Distal Deletion 13Q
Encephalocele, Anal atresia, Ambiguous genitalia, Renal hypoplasia/aplasia, Holoprosencephaly, An... ORPHA:1590
Isolated Epispadias
Epispadias, Urinary incontinence, Bifid clitoris, Anteriorly displaced urethral meatus, Vesicoure... ORPHA:93928
Hadziselimovic Syndrome
Anal atresia, High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:612946
46,Xy Ovotesticular Difference Of Sex Development
Perineal hypospadias, Fused labia minora, Micropenis, Ambiguous genitalia, Gonadoblastoma, Epispa... ORPHA:325345
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Spermatogenic Failure 17
Male infertility OMIM:617214
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anal atresia, Dextrocardia, Cryptorchidism, High palate, Renal hypoplasia/aplasia, Midshaft hypos... ORPHA:2863
Cleft Lip With Or Without Cleft Palate
Median cleft lip and palate, Hearing impairment, Recurrent otitis media, Median cleft lip, Non-mi... ORPHA:1991
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Phenobarbital Embryopathy
Hypospadias, Abnormal mitral valve morphology, Microcephaly, Tetralogy of Fallot ORPHA:1919
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hydrocephalus, Tetralogy of Fallot, Hypospadias ORPHA:250994
Diethylstilbestrol Syndrome
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... ORPHA:1916
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lym... OMIM:619126
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology, Stillbirth, Renal hy... OMIM:276950
3C Syndrome
Inguinal hernia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricu... ORPHA:7
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, High-output congestive heart failure, Telangiectasia, Congestive heart... ORPHA:137667
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Lymphadenopathy, Pleural effusion, Pericarditis, Splenomegaly ORPHA:85414
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Malignant Atrophic Papulosis
Pleural effusion, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Meige Disease
Edema of the dorsum of hands, Absence of lymph node germinal center, Laryngeal edema, Periorbital... ORPHA:90186
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Abnormality of the lymphatic system, Pleural effusion, Plantar ... ORPHA:69735
Congenital Contractural Arachnodactyly
Abnormally folded helix, High palate, Duodenal atresia, Crumpled ear, Tracheoesophageal fistula, ... ORPHA:115
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Simplified gyral pattern, Death in infancy, Abnormal cerebral white m... OMIM:618815
Autism
Abnormal repetitive mannerisms OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms OMIM:607373
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Glandular hypospadias, Bifid sc... ORPHA:456328
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Abnormality of th... OMIM:194072
Exstrophy-Epispadias Complex
Abnormality of the kidney, Renal duplication, Inguinal hernia, Horseshoe kidney, Penoscrotal tran... ORPHA:322
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Serkal Syndrome
Hypoplasia of the bladder, Pulmonic stenosis, Ventricular septal defect, Abnormal penis morpholog... ORPHA:139466
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Dextrocardia, Anal atresia, Enlarged kidney, Hydrocephalus, A... OMIM:314390
Even-Plus Syndrome
Recurrent urinary tract infections, Anal atresia, High palate, Atrial septal defect, Dysplastic c... OMIM:616854
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Anorectal anomaly ORPHA:2408
Vacterl/Vater Association
Hydronephrosis, Anal atresia, Cryptorchidism, Abnormal morphology of female internal genitalia, A... ORPHA:887
Diphallia
Duplicated colon, Inguinal hernia, Renal duplication, Atrial septal defect, Horseshoe kidney, Pen... ORPHA:227
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Decreased fertility, Hypospadias, Nephrolithiasis, Hypoplasia of penis ORPHA:1816
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Anal atresia, Intestinal malrotation, Hypoplastic left heart, Atrial septal defec... ORPHA:210122
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Dysplastic corpus... OMIM:620135
Schisis Association
Cleft palate, Tracheoesophageal fistula, Anal atresia, Unilateral cleft lip ORPHA:63862
Image Syndrome
Hydronephrosis, Cryptorchidism, Hypogonadism, Hypospadias ORPHA:85173
Tularemia
Cervical lymphadenopathy, Cough, Abnormal nasopharyngeal adenoid morphology, Respiratory distress... ORPHA:3392
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Bicuspid aortic valve, Microcephaly, Hypospadias OMIM:300997
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Ambiguous genitalia, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, ... OMIM:250790
Pendred Syndrome
Tracheal stenosis, Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasi... ORPHA:705
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypogonadism, Hypospadias OMIM:615985
Weaver-Williams Syndrome
Narrow mouth, Protruding ear, Cleft palate ORPHA:3448
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Anal atresia, Abnormality of the kidney, Micropenis, Atrial s... ORPHA:363444
Johanson-Blizzard Syndrome
Hydronephrosis, Anal atresia, Dextrocardia, Anteriorly placed anus, Malabsorption, Death in infan... ORPHA:2315
Genitopalatocardiac Syndrome
Renal cyst, Ventricular septal defect, Cleft palate, Double outlet right ventricle, Gonadal dysge... OMIM:231060
Acces Syndrome
Tracheoesophageal fistula, Low-set ears, Protruding ear OMIM:619959
Emanuel Syndrome
Recurrent urinary tract infections, Anal atresia, Cryptorchidism, Inguinal hernia, Micropenis, Pu... OMIM:609029
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms OMIM:300271
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Isolated Klippel-Feil Syndrome
Anal atresia, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ec... ORPHA:2345
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia, Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Congenital Primary Megaureter
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... ORPHA:617
Cat Eye Syndrome
Rectal fistula, Hydronephrosis, Anal atresia, Intestinal malrotation, Hypoplastic left heart, Pul... OMIM:115470
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hypertension, Edema, Ascites OMIM:603278
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Hypospadias ORPHA:141333
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
Leydig Cell Hypoplasia
Secondary amenorrhea, Cryptorchidism, Micropenis, Ambiguous genitalia, Primary amenorrhea, Abnorm... ORPHA:755
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Multiple glomerular cysts,... OMIM:618719
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Micropenis, Microcephaly, Abnormal cardiac septum morphology, Hypospadias OMIM:612626
Pseudotrisomy 13 Syndrome
Encephalocele, Anal atresia, Dextrocardia, Cryptorchidism, Micropenis, Polymicrogyria, Atrial sep... OMIM:264480
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Mckusick-Kaufman Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Hypoplastic left heart, Atrial septal ... ORPHA:2473
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula, Low-set ears, Neonatal death OMIM:619859
Abruzzo-Erickson Syndrome
Cleft palate, Hypospadias OMIM:302905
Fraxe Intellectual Disability
Prominent ear helix, Thick vermilion border, Recurrent hand flapping, Stereotypical body rocking,... ORPHA:100973
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Micropenis, Anteriorly placed anus, Atrial septal defect, Ventricular septal defect... OMIM:309801
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Neonatal respiratory distress, Chylothorax, Thymus hyperplasia OMIM:619036
Non-Syndromic Posterior Hypospadias
Anal atresia, Cryptorchidism, Esophageal atresia, Micropenis, Urethral diverticulum, Cleft palate... ORPHA:95706
Currarino Syndrome
Male pseudohermaphroditism, Abnormal intestine morphology, Hypoplasia of penis, Bifid scrotum, Ve... ORPHA:1552
Lambert Syndrome
Hypospadias OMIM:245550
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Cleft palate, Anencephaly, Ectop... ORPHA:2476
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Tracheoesophageal fistula, Abnormal palate morphology, Protruding ear, Abnormal pinna morphology ORPHA:3068
Emanuel Syndrome
Inguinal hernia, Bifid uvula, Atrial septal defect, Ventricular septal defect, Cleft palate, Micr... ORPHA:96170
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Opitz Gbbb Syndrome
Anal atresia, Cryptorchidism, Inguinal hernia, Micropenis, Rectourethral fistula, Ventricular sep... OMIM:300000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Bifid uvula, Cleft palate, Microcephaly, Hypoplasia of the corpus cal... OMIM:300958
Lumbar Syndrome
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... ORPHA:83628
Renal Agenesis, Bilateral
Low-set ears, Abnormal intestine morphology, Cleft palate, Non-midline cleft lip, Tracheoesophage... ORPHA:1848
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spermatogenic Failure 38
Abnormal sperm head morphology, Reduced sperm motility, Coiled sperm flagella, Absent sperm flage... OMIM:618433
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
15Q24 Microdeletion Syndrome
Anal atresia, Cryptorchidism, Microphallus, Myelomeningocele, Abnormal heart morphology, Intestin... ORPHA:94065
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Ascending aortic dissection, Mucoid e... ORPHA:229
Hennekam Syndrome
Recurrent respiratory infections, Hydrops fetalis, Respiratory insufficiency, Lymphangioma, Splen... ORPHA:2136
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Open mouth, High palate, Cleft palate, Recurrent hand flapping, Compulsive behaviors OMIM:620021
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Respiratory failure, Pleural effusion, Chylothorax ORPHA:3015
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pul... ORPHA:36238
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Mediastinal lympha... OMIM:234810
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Cardiomyopathy, Abnormal ext... ORPHA:2842
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Abnormality of the kidney, Cryptorchidism, Death in infancy,... ORPHA:1194
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter, Prune belly, Pulmonic stenosis OMIM:264140
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... OMIM:191800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Cryptorchidism, Dysplastic pulmonary valve, Partial agenesis ... OMIM:619103
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydronephrosis, Anal atresia, Vesicoureteral reflux, Hypoplasia of the bladder, Atrial septal def... OMIM:300707
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia, Pachygyria, Microcephaly, Lissencephaly, Hypoplastic anteri... OMIM:618325
Rhombencephalosynapsis
Esophageal atresia, Low-set, posteriorly rotated ears, Anal atresia, Aganglionic megacolon, Narro... ORPHA:59315
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sensorineural hearing impairment, Cleft palate OMIM:223200
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Gingival overgrowth, Morpho... ORPHA:1834
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, External genital hypoplasia, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney, Hydrocephalus, Hyp... OMIM:218350
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Vaginal fistula, Renal hypoplasia/aplasia, Persistent cloaca, Abnormality of female external geni... ORPHA:1112
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
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Res... ORPHA:723
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Posteriorly rotated ears, Macrotia, Short philtrum, Abnormal repetitive mannerisms,... OMIM:609425
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Furrowed tongue, Gingival overgrowth, Anorectal anomaly ORPHA:1839
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Spina bifida occulta, Hypospadias OMIM:101805
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... OMIM:146110
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Distal Deletion 10P
Anal atresia, Cryptorchidism, Polycystic ovaries, Cleft palate, Hypoplasia of penis, Ectopic anus... ORPHA:1580
Fryns Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Intestinal malrotation, Duodenal atres... ORPHA:2059
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Microcephaly, Ambiguous genitalia, Tetralogy of Fallot ORPHA:276422
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Increased incisura length, Cleft palate, Stenosis of the external audit... OMIM:612290
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Hypoplasia of the uter... OMIM:612964
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Pleural effusion, Edema, Recurrent lower respiratory tract infections, Recurr... OMIM:619644
Acrocardiofacial Syndrome
Anal atresia, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... ORPHA:2008
Kleefstra Syndrome Due To A Point Mutation
Anal atresia, Inguinal hernia, Abnormality of the kidney, Gastroesophageal reflux, Umbilical hern... ORPHA:261652
Trisomy 1Q
Hydronephrosis, Anal atresia, Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Hyd... ORPHA:261344
Fanconi Anemia, Complementation Group B
Esophageal atresia, Low-set ears, Duodenal atresia, Tracheoesophageal fistula, Death in infancy, ... OMIM:300514
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anal atresia, Cryptorchidism, High palate, Anteriorly placed anus, Pulmonic stenos... OMIM:619148
Smith-Magenis syndrome
Abnormal repetitive mannerisms DECIPHER:8
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... OMIM:252011
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Low-set ears, Duodenal atresia, Submucous cleft hard palate, Tracheoesophagea... OMIM:619227
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Auriculocondylar Syndrome 2
Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Short mandibular ram... OMIM:614669
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Secondary microcephaly, Hydrocephalus, Bicuspid aortic valve, Aortic valve sten... OMIM:615599
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias, Hydrocephalus OMIM:312190
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Inguinal hernia, Renal hypoplasia/aplasia, Renal dysplasia, Microcephaly, Agenesis of corpus call... ORPHA:2508
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Small vessel vasculitis, Angioedema, Restrictive ventilatory defect, Cough, Airway obstr... ORPHA:36412
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i... OMIM:620233
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Hypertrophic cardiomyopathy, Pulmonary edema, Myocardial infarction, Co... ORPHA:330001
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Anal atresia, Cryptorchidism, Intestinal malrotation, Ambiguous genitalia, Hydroce... ORPHA:2166
Woolly Hair Nevus
Widely-spaced incisors, Enlarged vestibular aqueduct ORPHA:79414
Branchiootorenal Syndrome 1
High palate, Intestinal malrotation, Conductive hearing impairment, Incomplete partition of the c... OMIM:113650
Adenocarcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99976
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Thin corpus callosum, Neurogenic bladder, Dysphagia, Pach... ORPHA:572013
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Anal atresia, Inguinal hernia, Aganglionic megacolon OMIM:235760
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Open mouth, High palate, Protruding ear, Bruxism, Persistence of primary teeth, Ove... OMIM:618342
Renal Agenesis
Proteinuria, Anal atresia, Ventricular septal defect, Renal insufficiency, Unilateral renal agene... ORPHA:411709
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Treacher-Collins Syndrome
High palate, Abnormality of the dentition, Conductive hearing impairment, Tooth agenesis, Tracheo... ORPHA:861
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Obstructive azoospermia, Absent vas deferens, Male infertility, Oligos... ORPHA:48
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Sensorineural hearing impairment, Cleft palate ORPHA:3157
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... OMIM:614702
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Arrhythmia, Lymphedema, Chylothorax, Predominantly lower limb lymphedema OMIM:153400
X-Linked Intellectual Disability, Abidi Type
Cleft palate, Non-midline cleft lip, Protruding ear, Hearing impairment ORPHA:85273
Cloacal Exstrophy
Abnormality of the clitoris, Anal atresia, Spina bifida, Horseshoe kidney, Hydroureter, Ureterope... ORPHA:93929
Apert Syndrome
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Cleft palate, Narrow palate, Ecto... ORPHA:87
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Branchial Arch Syndrome, X-Linked
High palate, Cryptorchidism, Pulmonic stenosis, High, narrow palate, Microcephaly OMIM:301950
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Prune belly, Hypertrophy of the urinary bladder, Renal dysplasia, Omphalocele, Uret... OMIM:601389
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Cryptorchidism, Ventricular septal defect, Umbilical hernia, Abnormal heart morph... ORPHA:500159
Penile Agenesis
Rectal fistula, Hydronephrosis, Anal atresia, Cryptorchidism, Ambiguous genitalia, Atrial septal ... ORPHA:49
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Cough, Arrhythmia, Cardiorespiratory arrest, Pulmonary edema, Rhinorrhe... ORPHA:188
Nephronophthisis 16
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Pulmonic ste... OMIM:615382
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Thakker-Donnai Syndrome
Anal atresia, Posteriorly rotated ears, Narrow mouth, Downturned corners of mouth, Macrotia, Trac... ORPHA:1780
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumonitis, Hypoxemia, Cr... ORPHA:2902
Fetal Trimethadione Syndrome
High palate, Ambiguous genitalia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal d... ORPHA:1913
Myotubular Myopathy With Abnormal Genital Development
High palate, Micropenis, Ambiguous genitalia, male, Bilateral cryptorchidism, Glandular hypospadi... OMIM:300219
Czeizel-Losonci Syndrome
Prominent antitragus, Low-set, posteriorly rotated ears, High palate, Hypoplastic helices, Trache... ORPHA:2437
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy, Esophageal obstruction OMIM:150700
Aorta Coarctation
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... ORPHA:1457
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, High palate, Anal atresia, Cryptorchidism, Gastroesophageal reflux, At... OMIM:613792
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, Ovotestis, Bicornuate uterus, True hermaphroditism, Sex revers... OMIM:400045
Opitz Gbbb Syndrome
Inguinal hernia, Atrial septal defect, Ventricular septal defect, Ankyloglossia, Abnormal heart m... ORPHA:2745
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, High palate, Dysplastic pulmonary valve, Anteriorly placed anus, Atri... OMIM:612863
Mosaic Trisomy 14
High palate, Cryptorchidism, Cleft palate, Hypoplasia of penis, Ectopic anus, Hypospadias ORPHA:1703
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Neonatal death, Congenital pyloric atresia, Microtia OMIM:619817
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Anal atresia ORPHA:195
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Hearing impairment ORPHA:77298
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Telangiectasia, Congestive heart failure, Pleural effusion, Splenomeg... OMIM:235200
Feingold Syndrome Type 1
Hydronephrosis, Esophageal atresia, Abnormality of the kidney, Vesicoureteral reflux, Anal atresi... ORPHA:391641
Kerion Celsi
Lymphadenopathy ORPHA:499
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:265380
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Anal atresia, Urogenital sinus anomaly, Hydroureter, Abnormal internal genitalia,... ORPHA:2973
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, High palate, Glossitis, Stomatitis, Tracheoesophageal fistula, Thin upper lip vermi... OMIM:277380
Prune Belly Syndrome
Hydronephrosis, Anal atresia, Cryptorchidism, Aplasia of the abdominal wall musculature, Hydroure... OMIM:100100
Triploidy
Macroglossia, Intestinal malrotation, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningo... ORPHA:3376
Cleft Lip/Palate
Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ... ORPHA:199306
Fg Syndrome Type 1
Malrotation of colon, Inguinal hernia, Cryptorchidism, Anal atresia, Pyloric stenosis, Atrial sep... ORPHA:93932
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Congenital Short Bowel Syndrome
Intestinal malrotation, Displacement of the urethral meatus, Intestinal hypoplasia ORPHA:2301
Chronic Granulomatous Disease
Pyloric stenosis, Malabsorption, Gingivitis, Tracheoesophageal fistula, Otitis media ORPHA:379
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, Penoscrota... OMIM:201810
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Lymphadenitis, Pulmonary fibrosis, Recurrent pneumonia... OMIM:618935
Chromosome 15Q14 Deletion Syndrome
Low-set ears, Cleft lip, Posteriorly rotated ears, Cleft palate, Tented upper lip vermilion, Ever... OMIM:616898
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Cryptorchidism, Hydrocephalus, Umbilical hernia, Abnormal heart morphology, Agen... OMIM:175700
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Hepatosplenomegaly, Mitral regurgitation, Polyhydramnios, Splenomegaly, Aortic valve stenosis, Ly... OMIM:613563
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... ORPHA:860
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Mitral valve prolapse, High palate, Abnormal heart valve morphology, Pulmonic stenosis ORPHA:2868
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Ureteral atresia, Unilateral renal agenesis, Death in infancy, Double out... OMIM:618845
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Bardet-Biedl Syndrome 6
Hypospadias, Vaginal atresia, External genital hypoplasia, Renal cyst OMIM:605231
Oeis Complex
Duplicated colon, Hydroureter, Labial hypoplasia, Pelvic kidney, Rectovaginal fistula, Hydronephr... OMIM:258040
Distal Duplication 15Q
High palate, Anal atresia, Cryptorchidism, Omphalocele, Microcephaly, Abnormality of female exter... ORPHA:1707
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Spermatogenic Failure 77
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Abruzzo-Erickson Syndrome
Cryptorchidism, Atrial septal defect, Cleft palate, Coronal hypospadias, Abnormal localization of... ORPHA:921
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Dyspnea, Epidural hemorrhage, Abnormal spleen morphology, Cough, Abnormal lym... ORPHA:464329
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Hypospadias ORPHA:1548
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Internall... OMIM:618654
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Dental malocclusion, Anteverted ears, Macrotia OMIM:615541
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, High palate, Tracheoesophage... ORPHA:958
Esophageal Atresia
Intestinal malrotation, Gastroesophageal reflux, Abnormality of the ear, Pyloric stenosis, Cleft ... ORPHA:1199
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Renpenning Syndrome
Decreased testicular size, Anal atresia, Cleft palate, High, narrow palate, Microcephaly, Hypospa... ORPHA:3242
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Hypospadias, Ventricular septal defect OMIM:618330
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Infantile Myofibromatosis
Gingival fibromatosis, Tracheoesophageal fistula, Intestinal obstruction, Abnormal intestine morp... ORPHA:2591
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Cleft palate, Neonatal death, Bicornuate uterus, Hypop... OMIM:615524
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Horseshoe kidney, Microgastria, Rectovaginal fistula, Multicystic kidney dy... ORPHA:2538
Congenital Hypothyroidism
Macroglossia, Intestinal obstruction, Hearing impairment, Tracheoesophageal fistula, Orofacial cleft ORPHA:442
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Microcephaly, Anal atresia ORPHA:93950
Martinez-Frias Syndrome
Intestinal hypoplasia, Duodenal atresia, Jejunal atresia, Tracheoesophageal fistula, Intestinal m... OMIM:601346
Sarcoidosis
Ventricular tachycardia, Dyspnea, Joint swelling, Cough, Heart block, Abnormal pleura morphology,... ORPHA:797
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Atresia of the external auditory canal, Hearing impairment, Tracheoesophageal fis... ORPHA:268249
Aspergillosis
Pleuritis, Dyspnea, Abnormality on pulmonary function testing, Chronic pulmonary obstruction, Cou... ORPHA:1163
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Pulmonic stenosis ORPHA:79159
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Micropenis, Bifid uvula, Umbilical hernia, Abnormal heart morphology, High, narro... ORPHA:2872
Tempi Syndrome
Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Telangiectasia, Abnormality of... ORPHA:284227
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Microtia OMIM:612138
Caudal Duplication
Uterus didelphys, Cryptorchidism, Spina bifida, Myelomeningocele, Renal hypoplasia/aplasia, Abnor... ORPHA:1756
Carcinoma Of Esophagus
Cough, Lymphadenopathy ORPHA:70482
8P23.1 Duplication Syndrome
Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms OMIM:608636
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Anal atresia, Mitral atresia, Horseshoe kidney, Ectopic kidney, Clitoral hypertrophy, Renal insuf... ORPHA:140952
Intellectual Disability, Wolff Type
Cryptorchidism, Abnormal intestine morphology, Hypospadias ORPHA:3080
Verheij Syndrome
Short neck, Intrauterine growth retardation, Short stature, Branchial cyst, Growth delay, Truncus... OMIM:615583
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Ventricular septal defect, Umbilical hernia, Bicuspid aortic valve, Microcephaly,... OMIM:617751
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Anus, Imperforate
Anal atresia OMIM:207500
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardio... OMIM:614096
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms OMIM:617171
Meier-Gorlin Syndrome 7
Anal atresia, Cryptorchidism, High palate, Micropenis, Anteriorly placed anus, Atrial septal defe... OMIM:617063
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Atrial septal defect, Bicuspid aortic valve, Dilated c... OMIM:615981
Anaplastic Thyroid Carcinoma
Dysphagia, Tracheoesophageal fistula, Laryngotracheal stenosis ORPHA:142
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Anasarca, Hypotension, Cardiomyopathy, T-wave invers... OMIM:261740
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia OMIM:246000
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Cryptorchidism, Hydrocephalus, Umbilical hernia, Abnormal heart morphology, Anal... OMIM:601499
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Short mandibular rami, Cle... OMIM:141400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Agenesis of corpus callosum, Hydrocephalus OMIM:617542
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms OMIM:618709
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced left ventricular ejection fraction, Hypotension, Heart block, Arrhythmia, Hypoxemia, Capi... ORPHA:542323
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:600638
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Hearing impairment OMIM:120433
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Dysphagia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus call... OMIM:617695
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Secondary microcephaly, Hydrocephalus, Bicuspid aortic valve, Hypoplasia of the... ORPHA:397951
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia ORPHA:2310
Scedosporiosis
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Cough, Pulmonary fibrosis, Sinusit... ORPHA:449280
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... OMIM:611584
Cleft Palate-Large Ears-Small Head Syndrome
Cleft palate, Hypospadias ORPHA:2013
Ovarian Hyperstimulation Syndrome
Capillary leak, Pulmonary edema, Hypovolemia, Pleural effusion, Peripheral edema, Generalized ede... ORPHA:64739
Lymphoproliferative Syndrome 1
Pleural effusion, Lymphadenopathy, Pericardial effusion, Splenomegaly OMIM:613011
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Immunodeficiency 104
Lymphadenopathy, Pneumonia, Splenomegaly OMIM:608971
Auriculocondylar Syndrome 1
Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Cleft palate, Dental... OMIM:602483
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Cough, Palpitations, Hypoxemia, Ischemic ... ORPHA:2038
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate, Hydronephrosis, Esophageal atresia... OMIM:229850
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Abnormal heart morphology, Dysphagia, Velo... OMIM:300978
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias ORPHA:1762
Gorham-Stout Disease
Pleural effusion, Rhinorrhea, Edema, Lymphangioma ORPHA:73
Pallister-Hall Syndrome
Hydronephrosis, Decreased testicular size, Cryptorchidism, Anal atresia, Micropenis, Anteriorly p... OMIM:146510
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms OMIM:300495
Congenital Disorder Of Glycosylation, Type Iy
Hypoplasia of the corpus callosum, Microcephaly, Hypospadias OMIM:300934
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Miscarriage, Ventricular septal defect, Abnormality of the ut... ORPHA:2438
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Opitz-Kaveggia Syndrome
Anal atresia, Inguinal hernia, Cryptorchidism, Anteriorly placed anus, Pyloric stenosis, Hydrocep... OMIM:305450
Dentici-Novelli Neurodevelopmental Syndrome
Widely spaced teeth, Hearing impairment, Macrotia, Abnormal repetitive mannerisms, Thin upper lip... OMIM:619877
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Secondary microcephaly, Ventricular septal defect, Ectopic kidney, Death in infan... OMIM:613730
Chromosome 6Pter-P24 Deletion Syndrome
Anal atresia, High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:612582
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Atrial septal defect, Aganglionic megacolon, Cleft palate, Microcephaly, Vesicouret... OMIM:614749
Congenital Tracheal Stenosis
Abnormal tracheobronchial morphology, Anal atresia, Duodenal atresia, Abnormal bronchus morpholog... ORPHA:141127
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Male hypogonadism, Hyp... ORPHA:163971
Diprosopus
Non-midline cleft lip, External ear malformation, Cleft palate ORPHA:1681
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Abnormal repetitive mannerisms, Recurrent hand flapping OMIM:617862
Caudal Regression Syndrome
Anal atresia, Cryptorchidism, Ambiguous genitalia, Arrhinencephaly, Ectopic kidney, Abnormality o... ORPHA:3027
Feingold Syndrome 1
Low-set ears, Esophageal atresia, High palate, Duodenal atresia, Jejunal atresia, Posteriorly rot... OMIM:164280
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Bruxism, Abnormal repetitive mannerisms, Low-set ears, Downturned corners of mouth OMIM:618718
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Epispadias, Abnormality of the u... ORPHA:93930
Fanconi Anemia, Complementation Group L
Low-set ears, Esophageal atresia, Anal atresia, Cleft palate, Tracheoesophageal fistula, Anotia, ... OMIM:614083
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Decreased testicular size, Cryptorchidism, Atrial septal defect, 3-... OMIM:610198
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Waldenström Macroglobulinemia
Vasculitis, Respiratory insufficiency, Periorbital edema, Gastrointestinal hemorrhage, Lymphadeno... ORPHA:33226
Squalene Synthase Deficiency
Polymicrogyria, Bicuspid aortic valve, Bilateral cryptorchidism, Hypoplasia of the corpus callosu... OMIM:618156
Neurofibromatosis-Noonan Syndrome
Dysphagia, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Intestinal pseudo-obstruction, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Atrial septal defect OMIM:614262
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Inguinal hernia, Dysplastic pulmonary valve, Micropenis, Atrial septal defect, Ve... OMIM:601808
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, High palate, Inguinal hernia, Cavum septum pellucidum, Cerebral atrophy, Gastroes... OMIM:616449
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Macrotia OMIM:300624
Sarcosinemia
Hypersarcosinuria, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
46,Xy Sex Reversal 4
Hydronephrosis, Anal atresia, High palate, Agonadism, Ureteropelvic junction obstruction, Hypopla... OMIM:154230
Cerebrofacioarticular Syndrome
Anteriorly placed anus, Pulmonic stenosis, Abnormal heart morphology, Dysplastic corpus callosum,... ORPHA:314679
Ulnar-Mammary Syndrome
Anal atresia, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Hernia of the abdomina... ORPHA:3138
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Tics, Posteriorly rotated ears, Deep philtrum, Cleft... OMIM:617808
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Microcephaly, Gonadal dysgenesis, male, Male pseudoh... ORPHA:2075
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia OMIM:227260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Anal atresia, High palate, Gastroesophageal reflux, Cerebral atrophy, Atrial sept... OMIM:614080
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Agenesis of the anterior commissure, Type II lissencephaly, High palate, Polymicrogyria, Primary ... ORPHA:300570
Fixed Subaortic Stenosis
Coarctation of aorta, Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrio... ORPHA:3092
Mungan Syndrome
Megaduodenum, Pulmonic stenosis, Hypoperistalsis, Perimembranous ventricular septal defect, Vesic... OMIM:611376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Anteriorly placed anus, Hypoplastic left heart, Chronic kidney disease, Unilateral renal agenesis... OMIM:617661
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Edema, Sleep apnea, Pleural effusion, Asthma OMIM:618606
Primary Intestinal Lymphangiectasia
Edema, Abnormal lymphatic vessel morphology, Pericardial effusion, Pleural effusion, Intestinal l... ORPHA:90362
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Dyspnea, Edema, Anasarca, Facial edema, Pulmonary embolism, Hypertension, Respiratory tract infec... ORPHA:567546
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, Isch... ORPHA:1344
Global Developmental Delay With Speech And Behavioral Abnormalities
Anal atresia, Inguinal hernia, Cryptorchidism, Microcephaly, Precocious puberty OMIM:619243
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respiratory distress... ORPHA:454836
47,Xyy Syndrome
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Male infertility, Macroorchidism, Oligosperm... ORPHA:8
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Sensorineural hearing impairment, Cleft lip OMIM:612370
Townes-Brocks Syndrome 2
Anal atresia, Bifid uterus, Spina bifida occulta, Vesicoureteral reflux, Rectovaginal fistula, Cr... OMIM:617466
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Shawl scrotum, Nephrotic syndrome, Gastritis, Glandular hypospadias, Hypospadias ORPHA:2575
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias OMIM:616910
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Cryptorchidism, Micropenis, Hypercalciuria OMIM:614732
Congenital Heart Defects And Skeletal Malformations Syndrome
Anal atresia, Cryptorchidism, High palate, Atrial septal defect, Ventricular septal defect, Intes... OMIM:617602
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Low-set ears, Downturned corners of mouth, Short philtrum, Abnormal repetitive ... OMIM:613443
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Abnormality of the pulmonary artery, Short stature ORPHA:1131
Sirenomelia
Anal atresia, Sirenomelia, Ambiguous genitalia, Spina bifida, Renal hypoplasia/aplasia, Tracheoes... ORPHA:3169
Polyvalvular Heart Disease Syndrome
High palate, Pulmonic stenosis, Abnormal heart valve morphology, Aortic valve stenosis, Mitral va... ORPHA:228410
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Anal atresia, Rectal atresia ORPHA:3016
N-Acetylaspartate Deficiency