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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 ORPHA:95707
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni... OMIM:615542
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
15q24 recurrent microdeletion syndrome
Hypospadias DECIPHER:66
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleural effusion, Lymphade... ORPHA:50251
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Ethanolaminosis
Cardiomegaly OMIM:227150
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:545
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorch... OMIM:613390
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Anus, Imperforate
Ectopic anus, Anal atresia, Hypospadias OMIM:301800
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias OMIM:176305
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Anal atresia, Persistent cloaca, Neonatal death OMIM:615709
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
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
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney, Bicuspid aortic valve, Microcephaly, Anal atresia OMIM:619318
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Cryptorchidism, Anal atresia, Hypospadias, Hypoplasia of penis ORPHA:1381
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Hypospadias, Tetralogy of Fallot, Ventricular sept... OMIM:220210
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Recurrent urinary... ORPHA:2970
Delpire-Mcneill Syndrome
Bilateral sensorineural hearing impairment, Tracheoesophageal fistula, Dysphagia OMIM:619083
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Atrial septal defect, Anal atresia, Abnormal external ge... ORPHA:3469
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... OMIM:616843
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypert... OMIM:612387
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic system, No... ORPHA:1041
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Anal atresia DECIPHER:42
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Phenobarbital Embryopathy
Tetralogy of Fallot, Microcephaly, Hypospadias, Abnormal mitral valve morphology ORPHA:1919
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Hypoplasia of the corpus callosum... OMIM:612946
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis OMIM:301060
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, Dextrocardia, High palate, Anal a... ORPHA:2863
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy, Recurrent respiratory infections, Br... OMIM:619126
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Isolated Epispadias
Vesicoureteral reflux, Anteriorly displaced urethral meatus, Bifid clitoris, Urinary incontinence... ORPHA:93928
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypospadias OMIM:179250
Spermatogenic Failure 17
Male infertility OMIM:617214
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphysema, Pulmonary ... ORPHA:538
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Vacterl Association With Hydrocephalus
Renal hypoplasia, Abnormal heart morphology, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal... OMIM:276950
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Hypospadias, Tetralogy of Fal... ORPHA:7
Distal Deletion 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Renal hypoplasia/aplasia, Microcephaly,... ORPHA:1590
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Cryptorchidism, Bicuspid aortic valve, Microcephaly, Hypospadias OMIM:300997
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Death in infancy, Abnormal c... OMIM:618815
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Cerebral ischemia, High-output cong... ORPHA:137667
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Hypoplasia of the corpus callosum, A... OMIM:175700
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the corpus callosum, Ventr... OMIM:620511
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:250994
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... ORPHA:139466
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit... ORPHA:69735
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Congenital Contractural Arachnodactyly
Crumpled ear, Intestinal malrotation, Tracheoesophageal fistula, Abnormally folded helix, High pa... ORPHA:115
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Patent foramen ovale... OMIM:616854
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis ORPHA:411703
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Thin upper lip vermilion, Aggressive behavior, Posteriorly rotated ears, Hyperactiv... OMIM:609425
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Dysplastic corpus callosum, Perimembra... OMIM:620135
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Decreased fertility, Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Transpo... OMIM:314390
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the abdominal wall, Abnormality of the ... ORPHA:322
Genitopalatocardiac Syndrome
Ventricular septal defect, Renal cyst, Transposition of the great arteries, Double outlet right v... OMIM:231060
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cl... ORPHA:2345
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Splenomegaly, Lymphadenopathy, Pericarditis ORPHA:85414
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scro... ORPHA:887
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Renal dysplasia OMIM:615985
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Image Syndrome
Hypogonadism, Hypospadias, Hydronephrosis, Cryptorchidism ORPHA:85173
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Pendred Syndrome
Vertigo, Tracheal stenosis, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnor... ORPHA:705
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Cerebral atrophy, Recurrent u... OMIM:609029
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Abno... ORPHA:363444
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ... OMIM:250790
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Microcephaly, Abnormal cardiac septum morphology, Micropenis, Hypospadias OMIM:612626
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Schisis Association
Anal atresia, Tracheoesophageal fistula, Unilateral cleft lip, Cleft palate ORPHA:63862
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... ORPHA:79126
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
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
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
Hypospadias ORPHA:2261
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Acces Syndrome
Low-set ears, Protruding ear, Tracheoesophageal fistula OMIM:619959
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias ORPHA:1355
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Hydrometrocolpos, Tetralogy of Fallot, Glan... ORPHA:2473
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Focal Segmental Glomerulosclerosis 1
Ascites, Hypertension, Edema, Pleural effusion OMIM:603278
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping, Open mouth, Attention deficit hyperactivity disorder, Comp... OMIM:620021
Diphallia
Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Anal atresia, Hypospadias, Epispadia... ORPHA:227
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Anteriorly placed anus, Death in infancy, Hydronephrosis, Microcephal... ORPHA:2315
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Holoprosencephaly, Renal agenesis, Polymicrogyria, Median cleft palate, Complet... OMIM:264480
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Colonic atresia, Anteriorly placed anus, Absent s... OMIM:309801
Tularemia
Pneumonia, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Pleural effusion... ORPHA:3392
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Phosphoribosylaminoimidazole Carboxylase Deficiency
Low-set ears, Tracheoesophageal fistula, Esophageal atresia, Neonatal death OMIM:619859
Emanuel Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Agenesis of corpus callosum, At... ORPHA:96170
Lambert Syndrome
Hypospadias OMIM:245550
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anorectal anomaly, Anal atresia ORPHA:2408
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Abnormal intestine morphology, Male pseudohermaphroditism, ... ORPHA:1552
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Hypoplasia of the corpus callosum, Microcephaly, Dysplastic pulm... OMIM:300958
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Dental crowding, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ... OMIM:618342
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Protruding ear, Tracheoesophageal fistula, Abnormal pinna morphology, Abnormal palate morphology ORPHA:3068
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Anal atresia, Ureteral dysgenesis, Renal agenesis OMIM:274265
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy... ORPHA:1194
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Esopha... ORPHA:95706
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup... ORPHA:83628
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hypoplasia of the bladder, Valvular pulmonary stenosis, Hydroureter, Crosse... OMIM:300707
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Renal Agenesis, Bilateral
Low-set ears, Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the ... ORPHA:1848
15Q24 Microdeletion Syndrome
Microphallus, Abnormal heart morphology, Myelomeningocele, Cryptorchidism, Microcephaly, Intestin... ORPHA:94065
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... OMIM:218350
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Chylothorax, Thymus hyperplasia OMIM:619036
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Penoscrotal Transposition
Cerebral cortical atrophy, Penoscrotal transposition, Abnormality of the urethra, Renal agenesis,... ORPHA:2842
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect, Ectopic anus, Spina bifida, Ane... ORPHA:2476
Opitz Gbbb Syndrome
Umbilical hernia, Congenital posterior urethral valve, Rectourethral fistula, Vesicoureteral refl... OMIM:300000
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Splenomegaly, Lymphadenopathy, Hydrops fetalis, Pulmonary lymph... ORPHA:2136
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, Truncus arterios... ORPHA:2008
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Abnormal heart morphology, Umbilical hernia, Abnormal periventricular white matte... ORPHA:500159
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Otoonychoperoneal Syndrome
Hypospadias OMIM:259780
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Microcephaly, Ambiguous genitalia, Hypospadias ORPHA:276422
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Anteriorly placed anus, Bifid scrotum, Cryptorchidism, En... OMIM:619148
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
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Ventricular septal defect, Mi... OMIM:618325
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux... OMIM:619103
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Ventric... ORPHA:261344
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula... ORPHA:59315
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Gingival overgrowth, Abnormal gastrointestinal tract ... ORPHA:1834
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosu... OMIM:615599
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth, Anorectal anomaly ORPHA:1839
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Umbilical hernia, Abnormal heart morphology, Vesicoureteral reflux, Inguinal ... ORPHA:261652
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hepatosple... OMIM:619644
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Prune belly, Hydroureter, Pulmonic stenosis OMIM:264140
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip, Sensorineural hearing impairment OMIM:223200
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:612964
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Microcephaly, Ambiguous genitalia, Transposition ... ORPHA:1913
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Cleft palate, Thin upper lip vermilion ORPHA:2015
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal female external genitalia morphology, Vaginal fistula, Persistent cloaca, Renal hypoplas... ORPHA:1112
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Microtia, Hearing Impairment, And Cleft Palate
Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove... OMIM:612290
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodena... OMIM:619227
Cleft Lip/Palate
Conductive hearing impairment, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Dental ma... ORPHA:199306
Fanconi Anemia, Complementation Group B
Low-set ears, Death in infancy, Tracheoesophageal fistula, Esophageal atresia, Overfolded helix, ... OMIM:300514
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Conductive hearing impairment, Cleft upper lip, Toot... ORPHA:861
Fryns Syndrome
Cerebral cortical atrophy, Multicystic kidney dysplasia, Tetralogy of Fallot, Intestinal malrotat... ORPHA:2059
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Microcephaly, Ectopic anus, Anal atresia, Hypoplasia of penis... ORPHA:1580
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Submucous c... OMIM:620444
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Downturned corners of mouth, Bruxism, Motor stereotypy, Hy... OMIM:618718
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotatio... ORPHA:2166
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Auriculocondylar Syndrome 2A
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... OMIM:614669
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia... ORPHA:411709
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Branchiootorenal Syndrome 1
Bifid uvula, Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomp... OMIM:113650
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate, Sensorineural hearing impairment ORPHA:3157
X-Linked Intellectual Disability, Abidi Type
Protruding ear, Cleft palate, Hearing impairment, Non-midline cleft of the upper lip ORPHA:85273
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Bradycardia, Pericardial... OMIM:614702
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... OMIM:300219
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Mosaic Trisomy 14
Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft palate ORPHA:1703
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythmia OMIM:153400
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Inguinal hernia, Renal hypoplasia/aplasia, Agenesis of corpus callosum... ORPHA:2508
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Apert Syndrome
Bifid uvula, Conductive hearing impairment, Delayed eruption of teeth, Sensorineural hearing impa... ORPHA:87
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Woolly Hair Nevus
Enlarged vestibular aqueduct, Widely-spaced incisors ORPHA:79414
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy, Esophageal obstruction OMIM:150700
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Cryptorchidism, Microcephaly, Abnormal renal morphology, Anal atre... OMIM:613792
Mycophenolate Mofetil Embryopathy
Tessier cleft, Atresia of the external auditory canal, Hearing impairment, Tracheomalacia, Anotia... ORPHA:268249
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
7Q31 Microdeletion Syndrome
Low-set ears, Gastroesophageal reflux, Long philtrum, Childhood onset sensorineural hearing impai... ORPHA:251061
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Czeizel-Losonci Syndrome
Hypoplastic helices, Low-set, posteriorly rotated ears, Tracheoesophageal fistula, Prominent anti... ORPHA:2437
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Atrial septal defect, Ventricular septal defect OMIM:618330
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Umbilical hernia, Hypoplasia of the corpus callosum, Ventricular septal defect, B... OMIM:617751
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Open mouth, Aggressive behavior, Atten... OMIM:613670
Branchial Arch Syndrome, X-Linked
High, narrow palate, Cryptorchidism, Microcephaly, High palate, Pulmonic stenosis OMIM:301950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ur... OMIM:618845
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... OMIM:278850
Congenital Short Bowel Syndrome
Intestinal malrotation, Intestinal hypoplasia, Displacement of the urethral meatus ORPHA:2301
Abruzzo-Erickson Syndrome
Cryptorchidism, Atrial septal defect, Coronal hypospadias, Abnormal localization of kidney, Hypos... ORPHA:921
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Opitz Gbbb Syndrome
Ankyloglossia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ve... ORPHA:2745
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Thakker-Donnai Syndrome
Downturned corners of mouth, Narrow mouth, Tracheoesophageal fistula, Anal atresia, Rectovaginal ... ORPHA:1780
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Cryptorchidism, Ambiguous geni... ORPHA:3376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Hearing impairment ORPHA:77298
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Pleural effusion, ... OMIM:618935
Kerion Celsi
Lymphadenopathy ORPHA:499
Fg Syndrome Type 1
Abnormal large intestine morphology, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia,... ORPHA:93932
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Chronic Granulomatous Disease
Gingivitis, Tracheoesophageal fistula, Otitis media, Pyloric stenosis ORPHA:379
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Male pseudohermaphroditism, Ambiguou... OMIM:201810
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomat... OMIM:277380
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypospadias ORPHA:2252
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Bardet-Biedl Syndrome 6
Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias OMIM:605231
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Mi... ORPHA:2872
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Abnormal testis morphology ORPHA:1548
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia, Inguinal hernia OMIM:235760
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Lymphedema, Hepatosplenomegaly, Splenomegaly, Mitral regurgit... OMIM:613563
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Cloacal Exstrophy
Intestinal duplication, Ureterocele, Hydroureter, Bladder exstrophy, Intestinal malrotation, Hors... ORPHA:93929
Radio-Renal Syndrome
Chylothorax, Pleural effusion ORPHA:3015
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Feingold Syndrome Type 1
Nephritis, Renal dysplasia, Abnormal heart morphology, Horseshoe kidney, Multiple muscular ventri... ORPHA:391641
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Prune belly, Urinary bladder wall hypertrophy, Omphalocel... OMIM:601389
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Oral mucosal blisters, Esophageal stenosis, Microtia OMIM:619817
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Renal agenesis, Mitral atresia, Horseshoe kidney, Renal insufficiency, Vesi... ORPHA:140952
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Short philtrum, Orofacial cl... ORPHA:958
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Cleft lip, Gastroesophageal reflux, Hearing impair... ORPHA:1199
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia, Penile hypospadias OMIM:312190
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia ORPHA:195
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse, High palate ORPHA:2868
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Neonatal death, Ventricular sept... OMIM:615524
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Hypersplenism, Hepatosplenomegaly, Pleural effusion,... ORPHA:846
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Pleural effusion, Splenomegaly, Lymphadenopathy, Pericardial effu... ORPHA:36412
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Distal Duplication 15Q
Abnormal female external genitalia morphology, Cryptorchidism, Microcephaly, Anal atresia, Omphal... ORPHA:1707
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Atrial ... OMIM:615981
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Anteriorly placed anus, Probst bundles, Mitral valve prolapse, Dysplastic tr... OMIM:612863
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Infantile Myofibromatosis
Abnormal intestine morphology, Tracheoesophageal fistula, Gingival fibromatosis, Intestinal obstr... ORPHA:2591
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Atten... OMIM:618761
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Hypospadias, Cryptorchidism ORPHA:3080
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Neurogenic bladder, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi... ORPHA:1756
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia ORPHA:142
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy ORPHA:457077
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Microcephaly, Anal atresia, Hypospadias, Cleft pa... ORPHA:3242
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Chromosome 15Q14 Deletion Syndrome
Low-set ears, Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum,... OMIM:616898
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Bicuspid aortic valv... ORPHA:397951
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Polymicrogyria, Bilateral cryptorchidism, Hypoplasia of the ... OMIM:618156
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Pleural effusion, Lymphangioma, Abnormal lymphatic vessel morpholo... ORPHA:464329
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Microtia OMIM:612138
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Prune Belly Syndrome
Prune belly, Xerostomia, Hydroureter, Cryptorchidism, Aplasia of the abdominal wall musculature, ... OMIM:100100
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Cryptorchidism, Hydr... OMIM:601499
Meier-Gorlin Syndrome 7
Anal stenosis, Clitoral hypertrophy, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral re... OMIM:617063
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis ORPHA:188
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Short neck, Short stature, G... OMIM:615583
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dicarboxylic aciduria ORPHA:79159
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Anal atresia, Decreased testicular size ORPHA:93950
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat... OMIM:614096
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... ORPHA:36238
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Duplicated collecting system, Anal atresia, Rectovagi... OMIM:258040
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Sarcoidosis
Chylothorax, Abnormal lymph node morphology, Emphysema, Abnormal pleura morphology, Portal hypert... ORPHA:797
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Fe... ORPHA:2973
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ... OMIM:620233
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Cleft pal... OMIM:141400
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Vesico... ORPHA:2438
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Abnormal heart morphology, Decreased testicular size, Cryptorchidis... OMIM:300978
Immunodeficiency 104
Pneumonia, Splenomegaly, Lymphadenopathy OMIM:608971
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Agenesis of corpus callosum, Ventric... OMIM:612582
Coffin-Siris Syndrome 6
Low-set ears, High, narrow palate, Conductive hearing impairment, Motor stereotypy, Attention def... OMIM:617808
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defe... OMIM:613730
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Inappropriate laughter, Stereotypical hand wringing, Thin upper lip ve... OMIM:614104
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Cleft palate ORPHA:2013
Pneumothorax, Primary Spontaneous
Spontaneous pneumothorax OMIM:173600
Pulmonary Bullae Causing Pneumothorax
Repeated pneumothoraces OMIM:265200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Hearing impairment, Cleft upper lip OMIM:120433
Proximal Xq28 Duplication Syndrome
Hypospadias, Cryptorchidism ORPHA:1762
Anus, Imperforate
Anal atresia OMIM:207500
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Trisomy 4P
Hypospadias, Cryptorchidism ORPHA:1738
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... ORPHA:284227
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Abnormal hear... OMIM:301111
Cerebrofacioarticular Syndrome
Anal stenosis, Renal hypoplasia, Anteriorly placed anus, Abnormal heart morphology, Hypoplasia of... ORPHA:314679
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Decreased testicular size, Cryptorchidism, 3-M... OMIM:610198
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,... OMIM:602483
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Vesicoureteral reflux, Microcephaly, Aganglionic megacolon, Atrial septal defect, ... OMIM:614749
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Perineal fistula, Agenesis of corpus callosum, Renal h... ORPHA:2538
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Anteriorly placed anus, Umbilical hernia, Abnormal heart morphology... OMIM:305450
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia OMIM:246000
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Bladder Exstrophy
Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Umbilical ... ORPHA:93930
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Hypospadias, Hypergonadotropic hypo... ORPHA:163971
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia ORPHA:2310
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias OMIM:300934
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Widely spaced teeth, Thin upper lip vermilion, Motor stereotypy, Wide mouth, ... OMIM:619877
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Abnormal stomach morphology,... ORPHA:141127
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements ORPHA:71518
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Anal atresia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:617695
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc... OMIM:261740
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Lymphoproliferative Syndrome 1
Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy OMIM:613011
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Cryptorchidism, Ventricular septal defect, Hernia of... ORPHA:3138
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Cerebral hypoplasia, Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Ne... OMIM:257300
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Microcephaly, Male pseudohermaphroditism, Gonadal d... ORPHA:2075
Fryns Syndrome
Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Atrial septal defect, Ana... OMIM:229850
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Fanconi Anemia, Complementation Group L
Low-set ears, Anotia, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Cleft palate, ... OMIM:614083
Smith-Magenis Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Head-banging, Hearing impairment, Vel... OMIM:182290
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate, Ventricular septal defect ORPHA:94066
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Cerebral atrophy, Furrowed tongue, Inguinal hernia, Hypoplasia of the corpu... OMIM:616449
Gorham-Stout Disease
Lymphangioma, Pleural effusion, Edema ORPHA:73
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Recurrent respiratory infectio... OMIM:615513
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
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
Congenital Heart Defects And Skeletal Malformations Syndrome
Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Anal atresia, Atrial septal de... OMIM:617602
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... ORPHA:1344
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ventricular septal defect, Microceph... OMIM:610832
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked