Gene Summary

Name:
arginine glutamic acid dipeptide (RE) repeats
Synonyms:
Atr2,  eyem03Jus atrophin-2,  eyes3,  1110033A15Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased IgG2b level RereRere HET Early adult 2.47×10-05
increased IgG1 level RereRere HET Early adult 8.39×10-05
decreased grip strength RereRere HET   Early adult 2.33×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Rere 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.

The table below shows human diseases associated to Rere by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Hypospadias, Ventricular septal def... OMIM:231060
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Multiple renal ... ORPHA:1166
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus OMIM:601355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Diabetic Embryopathy
Renal hypoplasia/aplasia, Cleft palate, Micropenis, Ureteral duplication, Tetralogy of Fallot, Ve... ORPHA:1926
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Meacham Syndrome
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:608978
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Urethral st... ORPHA:1727
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... ORPHA:363444
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, T... ORPHA:1913
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Micropenis, Renal agenesis, Pulmonary artery hypopla... ORPHA:2326
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Unilateral renal agenesis, Renal hypoplasia, Pate... OMIM:617661
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology, Abn... ORPHA:1705
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... OMIM:600987
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Recurrent urinary t... OMIM:613680
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Bilater... OMIM:601186
Johnson Neuroectodermal Syndrome
Cleft palate, Micropenis, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Rig... OMIM:147770
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Atrial septal defect, Micropenis, Unilateral renal agenesis, Hypoplastic right heart... OMIM:618142
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Unilate... OMIM:608572
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Pulmonic steno... ORPHA:3426
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... ORPHA:251071
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Pulmonic stenosis, Long philtrum, Anterior open-bite ma... OMIM:617877
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... OMIM:613759
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... OMIM:192430
Inverted Duplicated Chromosome 15 Syndrome
High palate, Unilateral renal agenesis, Short philtrum, Tetralogy of Fallot, Ventricular septal d... ORPHA:3306
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, High, narrow palate, Cleft palate, Renal agenesis, Abnormal lung lobati... ORPHA:2516
Thoracoabdominal Syndrome
Cleft upper lip, Cleft palate, Renal agenesis, Hypospadias, Ectopia cordis, Patent ductus arterio... OMIM:313850
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Gingival overgrowth, Atrial septal defect, Pulmonic stenosis, Abno... OMIM:179613
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defec... OMIM:306955
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal agenesis, Renal hypoplasia OMIM:236110
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Enlarge... OMIM:314390
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Intestinal malrotation, Long philtrum, Pulmonary artery atresia, Ventricula... ORPHA:401935
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cereb... OMIM:604213
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... ORPHA:96170
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Thin upper lip vermilion, Patent ductus arterios... OMIM:601927
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... OMIM:619910
Nanophthalmos 4
Microphthalmia OMIM:615972
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... OMIM:601612
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Atrial septal defect OMIM:608406
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Paten... OMIM:616789
Myeloma, Multiple
Paraproteinemia OMIM:254500
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Peripheral pulmonary artery stenosis, Cleft palate, Short philtrum, Tetralogy of Fall... OMIM:280000
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Williams-Beuren Region Duplication Syndrome
High palate, Unilateral renal agenesis, Short philtrum, Diastema, Patent ductus arteriosus, Hydro... OMIM:609757
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tracheoesophageal fistula, Esophageal... ORPHA:95430
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... ORPHA:2306
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypoplastic left heart, Long philtrum, Coarctation of... ORPHA:2209
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Abnorm... ORPHA:477817
Chopra-Amiel-Gordon Syndrome
Cleft palate, Unilateral renal agenesis, Short philtrum, Cleft lip, Pierre-Robin sequence, Thin u... OMIM:619504
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Tented upper lip vermi... ORPHA:2059
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Neonatal death, Protein-losing enteropathy, Patent ductus arteriosus, Death in inf... OMIM:608104
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microphthalmia OMIM:615771
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Ververi-Brady Syndrome
High palate, Wide mouth, Everted lower lip vermilion, Transposition of the great arteries, Thin u... OMIM:617982
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Unilateral renal agenesis, Hyperechogenic kidneys, Inflammation of the larg... OMIM:614576
Chromosome 9P Deletion Syndrome
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Micropenis, ... OMIM:158170
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the ureter,... ORPHA:1666
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Cleft palate, Micropenis, Hypospadias, Death in childhood, Coarctation of aorta,... OMIM:600460
Mungan Syndrome
Barrett esophagus, Pulmonic stenosis, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduoden... OMIM:611376
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, EEG abnormality, Short stature, Optic nerve hy... OMIM:614833
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Optic atrophy, Microphthalmia, Growth delay, Agenesis of corpus callosum OMIM:274270
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hematuria, Patent ductus arteriosus, Abno... ORPHA:90308
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Gombo Syndrome
Microphthalmia OMIM:233270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate, Unilateral renal agenesis, Renal agenesis, Ectopic kidney OMIM:601076
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Carious teeth, Downturned corners of mouth, Abnormal ao... ORPHA:1110
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... OMIM:605376
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Thakker-Donnai Syndrome
Anal atresia, Narrow mouth, Tracheoesophageal fistula, Tetralogy of Fallot, Ventricular septal de... ORPHA:1780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial ... ORPHA:290
8P23.1 Duplication Syndrome
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis,... ORPHA:251076
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Thin upper lip vermilion, Vesicoureteral reflux ORPHA:2512
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Progressive hearing impairment, Cerebellar hypoplasia, Short stature OMIM:616113
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Waardenburg Syndrome Type 2
Abnormality of the kidney, Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Renal Agenesis
Anal atresia, Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Carpenter Syndrome 1
High palate, Atrial septal defect, Persistence of primary teeth, Pulmonic stenosis, Hydroureter, ... OMIM:201000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Microphthalmia, Intrauterine... OMIM:616171
Thomas Syndrome
Cleft upper lip, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate, Multicystic kidn... ORPHA:3316
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Unilateral renal agenesis, Cleft palate, Micropenis OMIM:244200
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Unilateral cleft lip, Hypospadias, Tetralogy of Fallot ORPHA:1919
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Unilateral renal agenesis, Methylmalonic aciduria, Intraventricular hemorrhage, Sto... ORPHA:79284
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Intrauterine growth retardation, Microphthalmia OMIM:616570
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... ORPHA:93101
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Branchiootorenal Syndrome 1
High palate, Cleft palate, Intestinal malrotation, Unilateral renal agenesis, Branchial fistula, ... OMIM:113650
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Unilateral renal agenesis, Neonatal death, Ventricular septal defect, Paten... OMIM:620024
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Intestinal malrotation, Ure... ORPHA:2255
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Aganglionic megacolon OMIM:235740
Sandestig-Stefanova Syndrome
High palate, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal de... OMIM:618804
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... ORPHA:2712
Renal Tubular Dysgenesis
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Distal Tetrasomy 15Q
High palate, Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney d... ORPHA:314588
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... OMIM:619227
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Wide mouth, Dental malocclusion, Pulmonic stenosis, Unilatera... OMIM:616737
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Chime Syndrome
Pulmonary valve atresia, Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentit... ORPHA:3474
Warburg Micro Syndrome 1
Failure to thrive, Microphthalmia, Short stature, Cerebellar hypoplasia, Optic atrophy, Cerebella... OMIM:600118
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Coach Syndrome 1
Wide mouth, Nephronophthisis, Unilateral renal agenesis, Renal cyst, Vascular dilatation, Esophag... OMIM:216360
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Renal agenesis, Hypospadias, Long philtrum,... ORPHA:508498
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension OMIM:135580
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Unilateral rena... OMIM:156810
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Ehlers-Danlos Syndrome, Classic-Like
Hiatus hernia, Unilateral renal agenesis, Quadricuspid aortic valve, Mitral valve prolapse, Vesic... OMIM:606408
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate, Pat... ORPHA:2001
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Aortic Aneurysm, Familial Thoracic 9
High palate, Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral val... OMIM:616166
X-Linked Mandibulofacial Dysostosis
High palate, Abnormal mitral valve morphology, Pulmonic stenosis, Abnormality of the pulmonary ar... ORPHA:1131
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cofs Syndrome
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the cerebellum, Optic atro... ORPHA:1466
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Micropenis, Unilateral renal agenesis, Short philtrum, Deep philtr... OMIM:619951
Tetralogy Of Fallot
Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Alg3-Cdg
High palate, Macroglossia, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardi... ORPHA:79321
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microphthalmia OMIM:278780
2Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Low-set, posteriorly rotated ears, Microphthalmia, ... ORPHA:1617
7Q11.23 Microduplication Syndrome
High palate, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Enuresis, Thin ver... ORPHA:96121
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hypodontia, Micropenis, Pulmonic stenosis, Hypospadias, Pulmonary ... OMIM:301056
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Macroglossia, Micropenis, Renal agenesis, Hypospadias, Diastema, Ve... OMIM:301040
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... ORPHA:1596
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Nephritis, Tricuspid stenosis, Abnormality of ... ORPHA:391641
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Ventricular septal defect, Abnormal tricuspid valve morphol... ORPHA:3405
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis, Short philtrum, Short lingual frenulum, Anteriorly pla... OMIM:608980
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Cleft palate, Nephronophthisis, Intestinal malrotation, Hypospadias, Ab... ORPHA:1505
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Cerebellar hypoplasia, Optic atrophy, Septo-optic dysplasia, M... ORPHA:1528
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Methimazole Embryofetopathy
Tracheoesophageal fistula, Hypospadias, Coarctation of aorta, Ventricular septal defect, Esophage... ORPHA:1923
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Abnormal palate morphology ORPHA:1381
Acrofacial Dysostosis 1, Nager Type
Cleft upper lip, Wide mouth, Velopharyngeal insufficiency, Cleft palate, Unilateral renal agenesi... OMIM:154400
Facial Dysmorphism With Multiple Malformations
Anal atresia, Narrow mouth, Tetralogy of Fallot, Ventricular septal defect, Downturned corners of... OMIM:227255
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Smooth philtrum, Truncus arteriosus OMIM:611867
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malr... ORPHA:2970
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Wide mouth,... ORPHA:163956
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Situs inversus to... ORPHA:991
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Abnormal stomach morphology, Renal insufficiency ORPHA:281090
Timothy Syndrome
Microdontia, Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus... OMIM:601005
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... OMIM:612561
Biemond Syndrome Type 2
Hypospadias, Obesity, Microphthalmia ORPHA:141333
Heart And Brain Malformation Syndrome
High, narrow palate, Everted lower lip vermilion, Ventricular septal defect, Cleft lip, Interrupt... OMIM:616920
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Ureteral stenosis, Dextrocardia, Pulmonary hypoplasi... ORPHA:2257
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Wide mouth, Dental malocclusion, Unilateral renal agenesis, Hypospadias, Short philtrum, Long phi... ORPHA:487796
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Nager Syndrome
Wide mouth, Cleft palate, Unilateral renal agenesis, Non-midline cleft lip, Abnormal palate morph... ORPHA:245
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Abcd Syndrome
Neonatal death, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Short stature, Microphthalmia OMIM:610023
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Thin vermilion border, Hypospadias, ... ORPHA:261311
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemorrhage, Mitral valve calci... ORPHA:363618
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia OMIM:218670
Microphthalmia, Syndromic 12
Anophthalmia, Wide nasal bridge, Microphthalmia OMIM:615524
Pierpont Syndrome
Large fleshy ears, Failure to thrive, Decreased body weight, Short stature, Chiari malformation, ... OMIM:602342
Pierpont Syndrome
Uplifted earlobe, Microphthalmia, Small for gestational age, Chiari malformation, Macrotia, Heari... ORPHA:487825
Digeorge Syndrome
High palate, High, narrow palate, Cleft palate, Unilateral renal agenesis, Short philtrum, Bifid ... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis, Tented upper lip vermilion, Open mouth OMIM:616362
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Ventricular septal defect, High, narrow palate, Mitral valve prolapse,... OMIM:180849
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney, Cleft palate OMIM:118100
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft palate, Renal agenesis, Hypospadias, Bilateral lung agenesis, Hypoplasia of the bladder, Ve... OMIM:611812
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Monosomy 18Q
Absence of the pulmonary valve, High palate, Wide mouth, Secundum atrial septal defect, Aortic va... ORPHA:1600
Smith-Lemli-Opitz Syndrome
Dental crowding, Cleft palate, Ventricular septal defect, Pyloric stenosis, Pulmonary hypoplasia,... OMIM:270400
Tetraamelia Syndrome 2
Micropenis, Glossoptosis, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral cleft... OMIM:618021
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal stomach mor... ORPHA:141127
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Intestinal malro... OMIM:613834
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Bilateral microphthalmos OMIM:608763
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Tetralogy of Fa... OMIM:618280
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ogden Syndrome
High palate, Abnormality of the dentition, Short philtrum, Enlarged kidney, Ventricular septal de... OMIM:300855
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Zttk Syndrome
High palate, Narrow mouth, Atrial septal defect, Intestinal atresia, Thin vermilion border, Abnor... OMIM:617140
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... ORPHA:2919
Down Syndrome
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... OMIM:190685
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the dentition, Abnormality of the philtrum, Hypospadias, Tetralogy of Fallot ORPHA:276422
Nephrotic Syndrome, Type 11
High palate, Nephrotic syndrome, Renal tubular atrophy, Cleft palate, Diffuse mesangial sclerosis... OMIM:616730
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septa... OMIM:616145
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy, Arterial intimal fibrosis, Pul... OMIM:178600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... OMIM:613153
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Atrial septal defect, Hypospadias, Bifid uvula, Recurr... OMIM:619314
Cat-Eye Syndrome
Hearing impairment, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... ORPHA:500
Neu-Laxova Syndrome 1
Cleft upper lip, Cleft palate, Renal agenesis, Ventricular septal defect, Patent ductus arteriosu... OMIM:256520
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... ORPHA:2237
Braddock Syndrome
Unilateral renal agenesis, Pulmonary fibrosis ORPHA:52047
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Cockayne Syndrome Type 3
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Unilateral renal agenesis... ORPHA:90324
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, High palate, Anal atresia, Macroglossia, Unilateral renal agenesis, Sho... ORPHA:261337
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... OMIM:618223
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Microphthalmia ORPHA:2528
Faciothoracogenital Syndrome
Glandular hypospadias, Microphthalmia OMIM:227320
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Short stature, Rieger anomaly, Abnormal auditory evoked potenti... OMIM:109120
Vater/Vacterl Association
Anal atresia, Renal agenesis, Tracheoesophageal fistula, Hypospadias, Tetralogy of Fallot, Renal ... OMIM:192350
Pallister-Hall-Like Syndrome
Cleft palate, Micropenis, Renal dysplasia, Pulmonary hypoplasia, Death in infancy, Median cleft l... OMIM:241800
Craniofacioskeletal Syndrome
Atrial septal defect, Cleft palate, Hypospadias, Short philtrum, Ventricular septal defect, Thin ... OMIM:300712
Acrocardiofacial Syndrome
Mitral stenosis, Cleft upper lip, Anal atresia, Atrial septal defect, Hypoplasia of penis, Cleft ... ORPHA:2008
Kimura Disease
Increased circulating IgE level ORPHA:482
Emanuel Syndrome
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Recurrent r... OMIM:609029
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, High, narrow palate, Cleft palate, Renal agenesis, Long philt... OMIM:618494
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Abnormality of the pulmonary vasculature, Cleft palate, Recurrent urinary tract ... ORPHA:33001
Halperin-Birk Syndrome
High palate, Death in childhood, Perimembranous ventricular septal defect, Thick vermilion border OMIM:618651
Cat Eye Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... OMIM:115470
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Short stature, Microphthalmia, Hearing impairment, Agenesis of corpus ... OMIM:614583
Microphthalmia, Syndromic 13
Abnormal pinna morphology, Anteverted ears, Short stature, Microphthalmia OMIM:300915
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot OMIM:613630
Serkal Syndrome
Pulmonic stenosis, Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Renal agen... ORPHA:139466
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... OMIM:614886
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Peripheral pulmonary artery stenosis, Unilateral renal agenesis, Small bowe... ORPHA:90348
Pallister-Hall Syndrome
Cleft upper lip, Anal atresia, Distal urethral duplication, Cleft palate, Micropenis, Hydroureter... OMIM:146510
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Micropenis, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasi... OMIM:616541
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Open mouth ORPHA:457284
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Abnormal cardiac septum morphology, Unilateral renal agenesis, Single ventricle,... OMIM:308050
Kallmann Syndrome With Spastic Paraplegia
High palate, Unilateral renal agenesis, Micropenis OMIM:308750
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... OMIM:217085
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Horseshoe kidney, Double outl... OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Aganglion... OMIM:308205
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Short nose, Hypoplasia of penis, Microphthalmia ORPHA:2547
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Long philtrum... OMIM:612863
Seckel Syndrome 2
Short stature, Small for gestational age, Cerebellar hypoplasia, Microphthalmia, Growth delay OMIM:606744
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Triangular mouth, Pulmon... OMIM:617506
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Renal agenesis, Hypospadias,... ORPHA:1335
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level OMIM:618048
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Tetralogy of Fallot, Renal hypoplasia, Median cleft lip OMIM:617926
Congenital Toxoplasmosis
Hearing impairment, Intrauterine growth retardation, Failure to thrive in infancy, Microphthalmia ORPHA:858
Meckel Syndrome, Type 8
Short nose, Anophthalmia, Microphthalmia OMIM:613885
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Duodenal Atresia
Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Aortic Aneurysm, Familial Thoracic 10
High palate, Dental crowding, Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneur... OMIM:617168
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Restrictive Dermopathy
Narrow mouth, Atrial septal defect, Hypospadias, Ureteral duplication, Dextrocardia, Patent ductu... ORPHA:1662
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Micr... OMIM:615181
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Duodenal atresia, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Vent... ORPHA:464311
Mckusick-Kaufman Syndrome
High palate, Ectopic anus, Anal atresia, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... ORPHA:2473
Transaldolase Deficiency
Abnormality of the kidney, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta ORPHA:101028
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Bifid uvula... OMIM:617660
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Micropenis, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ventric... OMIM:617159
Craniofacial Microsomia
Cleft upper lip, Wide mouth, Transverse facial cleft, Cleft palate, Renal agenesis, Multicystic k... OMIM:164210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cleft palate, Unilateral... OMIM:213980
Microphthalmia, Syndromic 2
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, ... OMIM:300166
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Delayed eruption of teeth, Coarctation ... ORPHA:2780
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Microphthalmia, Growth delay, Hearing impairment, Intrauterine growth ... OMIM:610756
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Aminopterin/Methotrexate Embryofetopathy
Cleft palate, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inv... ORPHA:1908
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septal defect, Rena... ORPHA:75389
Isolated Klippel-Feil Syndrome
Short neck, Ventricular septal defect, Congenital muscular torticollis, Webbed neck, Spina bifida... ORPHA:2345
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Dysplastic pulmonary valve, Hypospadias, Recurrent urinary tract infections, Ventricu... OMIM:619103
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Anteriorly placed an... OMIM:600057
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Optic disc pallor, Short stature, Cerebellar hypoplasia, Microphthalmia OMIM:251270
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Failure to thrive, Abnormality of the ear, Small for gestationa... OMIM:214150
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Dyrk1A-Related Intellectual Disability Syndrome
Duodenal atresia, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospadias, Vent... ORPHA:464306
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate OMIM:619239
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Postnatal growth retardation, Bilateral microphthalmos, Severe sensorineural hearin... OMIM:600122
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cleft palate, Ventricular septal defect, Widely spaced teeth, Absent cupid's bow, Everted upper l... ORPHA:513456
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophageal varix, Stag... OMIM:619534
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Atrial septal defect, Cleft palate, Abnormality of the dent... ORPHA:96167
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Tetralogy of ... OMIM:174300
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Long philtrum, Patent ductus arteriosus, Hydrone... ORPHA:250989
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Bresek Syndrome
Low-set ears, Protruding ear, Optic nerve hypoplasia, Neonatal death, Microphthalmia, Growth dela... ORPHA:85284
Mmep Syndrome
Microphthalmia ORPHA:3434
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Ventricular septal defect, Pneumonia, Abnormal heart morphology, Nephrolithiasis, ... ORPHA:353281
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Intrauterine growth retardation, Decreased body weight, Short stat... OMIM:609053
Fanconi Anemia, Complementation Group B
Duodenal atresia, Micropenis, Renal agenesis, Tracheoesophageal fistula, Coarctation of aorta, Ab... OMIM:300514
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cleft palate, Micropenis, Hypospadias, Intracranial hemorrhage, Short philt... ORPHA:163979
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level OMIM:243700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia OMIM:614830
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:7
Adams-Oliver Syndrome 2
Protruding ear, Cerebellar hypoplasia, Optic atrophy, Microphthalmia, Low-set ears, Retrocerebell... OMIM:614219
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Cleft palate, Enlarged kidney, Ventricular septal defect, Submucous cleft lip, Duplic... OMIM:312870
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 12
High palate, Bicuspid aortic valve, Ascending aortic dissection, Aortic root aneurysm, Ascending ... OMIM:619825
Perlman Syndrome
Long upper lip, Nephrogenic rest, Nephroblastomatosis, Nephroblastoma, Distal ileal atresia, Tent... OMIM:267000
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High palate, Increased urine alpha-ketoglutarate concentration, Gingival overgrowth, Atrial septa... OMIM:220500
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Delayed eruption of teeth, Bifid uvula, Hypercalciuria, Renal dysplasia, Cleft hard... OMIM:300990
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections, Arteria lusoria, Thin lower lip ve... ORPHA:221139
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Dandy-Walker malformation, Microphthalmia OMIM:164180
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Muscular ventricular septal defect, Delayed eruption of teeth, Ventricul... OMIM:619503
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Failure to thrive, Short stature, Overfolded helix, Microphthal... OMIM:243310
Noonan Syndrome 9