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Gene: Rere MGI:2683486

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Select physiological systems to view:
Viewing: all phenotypes
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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hearing impairment, Postnatal gr... ORPHA:494344
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart... ORPHA:1606
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Abnormal pinna morphology,... OMIM:616975

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Right aortic a... OMIM:231060
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... 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
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... OMIM:618845
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, Cleft palate, Tooth age... ORPHA:1166
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Abnormal cardi... ORPHA:294975
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... OMIM:620294
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, C... ORPHA:1926
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition... ORPHA:1727
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali... OMIM:616749
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... OMIM:608978
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
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
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... ORPHA:99050
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... OMIM:618494
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven... OMIM:617478
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unil... ORPHA:363444
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Pe... OMIM:601186
Fetal Trimethadione Syndrome
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... ORPHA:1913
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Meacham Syndrome
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus,... ORPHA:3097
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ... ORPHA:1705
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Short lingual frenulum, Anomalous origin of left coronary artery from the pulmona... ORPHA:2326
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, An... OMIM:617661
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arte... OMIM:618142
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious... OMIM:613680
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent... OMIM:619657
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Pulmonary hypoplas... OMIM:314390
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis OMIM:617577
8P23.1 Microdeletion Syndrome
Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ab... ORPHA:251071
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft pa... OMIM:608572
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronch... OMIM:618254
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Thick lower lip vermili... OMIM:612946
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... OMIM:270100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Low-set ears, Microphthalmia, Agenesis of corpus callosum, Intrauterine gr... OMIM:616570
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, High palate, Short philtrum, Tetralogy of F... ORPHA:3306
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... OMIM:192430
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpositi... OMIM:313850
Emanuel Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:609029
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... OMIM:617877
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, High, narrow palate, Abnorma... ORPHA:2516
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... OMIM:179613
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Atrial septal defect, Thin upper lip vermilion, Hypospadias, Ve... OMIM:618316
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic ... OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart OMIM:236110
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Sever... OMIM:604213
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno... ORPHA:3304
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation... ORPHA:401935
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate, Atrial septal d... OMIM:614846
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Ventricular septal defect, Dental cr... ORPHA:96170
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ... OMIM:616789
Myeloma, Multiple
Paraproteinemia OMIM:254500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Diastema, Patent ductus arteriosus, Short philtrum, High palate, Hydro... OMIM:609757
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Short stature, Hypoplasia of the pons, Partial agenesis of... OMIM:616171
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... ORPHA:477817
Fryns Syndrome
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ... ORPHA:2059
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal renal morphology, Abnormal heart morpholo... ORPHA:2209
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-los... OMIM:608104
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Unilateral renal agenesis, Cleft lip, Pierre-Robin sequence, Cleft pala... OMIM:619504
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Intellectual Developmental Disorder, Autosomal Recessive 71
Increased overbite, Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, High, narrow palate, Patent duc... OMIM:158170
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal renal... ORPHA:1666
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus,... OMIM:614576
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Growth delay, Microphthalmia, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, EEG abnorm... OMIM:614833
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... OMIM:611376
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus a... OMIM:600460
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... OMIM:618719
Gombo Syndrome
Microphthalmia OMIM:233270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Cleft palate OMIM:601076
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Hematuria, Abno... ORPHA:90308
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... OMIM:616652
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... ORPHA:1780
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, A... OMIM:201000
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... ORPHA:1110
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... OMIM:618205
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon, Abnormality of the kidney ORPHA:895
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... ORPHA:2255
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... ORPHA:251076
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Thin upper lip vermilion, Unilateral renal agenesis ORPHA:2512
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias OMIM:615542
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropath... ORPHA:3033
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Thick vermilion border... OMIM:280000
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Orofac... OMIM:618804
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... ORPHA:98813
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... ORPHA:314588
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria, Cleft palate, Abn... ORPHA:79284
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... OMIM:618619
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Optic atrophy, Cerebellar hypoplasia, M... ORPHA:1528
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... OMIM:620024
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Cleft palate, Hypoplasti... ORPHA:3316
Branchiootorenal Syndrome 1
Branchial cyst, Renal malrotation, Branchial fistula, Intestinal malrotation, Unilateral renal ag... OMIM:113650
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Micropenis, Unilateral renal agenesis, Cleft upper lip OMIM:244200
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic... OMIM:617641
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Abnormal dental morphology, Abnormality of ... ORPHA:3474
Warburg Micro Syndrome 1
Failure to thrive, Cerebellar vermis hypoplasia, Short stature, Optic atrophy, Cerebellar hypopla... OMIM:600118
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias, Unilateral cleft lip ORPHA:1919
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... OMIM:108900
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection OMIM:135580
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Denta... OMIM:616737
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, High palate, Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality ... ORPHA:1131
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal varix, Stage 5 chroni... OMIM:216360
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum, Cerebellar ver... OMIM:615771
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... OMIM:616166
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth... OMIM:615502
Shashi-Pena Syndrome
Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Patent duc... OMIM:617190
Distal Deletion 15Q
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitra... ORPHA:1596
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Hypospadias, Renal agenesis, Bicuspid aortic valve, Ventricular septal ... ORPHA:508498
Cofs Syndrome
Short stature, Sensorineural hearing impairment, Optic atrophy, Aplasia/Hypoplasia of the cerebel... ORPHA:1466
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundu... OMIM:619951
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect... OMIM:619227
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Ventricular septal defect, Vesicoureteral reflux, Doub... OMIM:301056
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Bicuspid aortic valve, Unilateral renal agenesis OMIM:614900
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Small for gestational age OMIM:278780
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:218670
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Tricuspid steno... ORPHA:391641
Nanophthalmos
Microphthalmia ORPHA:35612
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic... OMIM:606408
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Macroglossia, High palate, Pulmonary h... ORPHA:79321
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Renal agenesis, Hypospadias, Ventricular septal defect, Protruding ... OMIM:301040
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Small for gestational age, Growth delay, Microphthalmia, Failu... ORPHA:1617
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Shor... ORPHA:96121
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... ORPHA:1923
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Ebstein anomaly of the tricusp... OMIM:608980
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... ORPHA:2970
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Perimembr... OMIM:608779
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Nanophthalmos 4
Microphthalmia OMIM:615972
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology ORPHA:281090
Heart And Brain Malformation Syndrome
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low... OMIM:616920
Pagod Syndrome
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis,... ORPHA:991
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular septal defect, Cleft lip, Pul... OMIM:611812
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... OMIM:613630
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:620210
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Biemond Syndrome Type 2
Microphthalmia, Hypospadias, Obesity ORPHA:141333
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cardiac-Urogenital Syndrome
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Anal atresia, Tetralogy of Fallot, Abnormal palate morphology ORPHA:1381
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... ORPHA:2257
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Hearing impairment OMIM:610023
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Nager Syndrome
Unilateral renal agenesis, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal palate morph... ORPHA:245
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Pierpont Syndrome
Short stature, Posteriorly rotated ears, Large fleshy ears, Chiari malformation, Decreased body w... OMIM:602342
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Hypospadias, Mitral stenosis, Ventricular septal defect, Patent... ORPHA:163956
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... OMIM:612561
Pierpont Syndrome
Posteriorly rotated ears, Small for gestational age, Uplifted earlobe, Chiari malformation, Micro... ORPHA:487825
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morph... ORPHA:141127
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Atele... OMIM:188400
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat... ORPHA:487796
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ventricular septal defect, Ectopic kidney, Esophage... OMIM:192350
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Dental crowding, Fusiform ... OMIM:617168
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Papillary renal cell carcinoma, Intracranial... ORPHA:363618
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... ORPHA:371428
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... ORPHA:261311
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Rubinstein-Taybi Syndrome 1
Dental crowding, High, narrow palate, Aortic isthmus hypoplasia, High palate, Atrial septal defec... OMIM:180849
Smith-Lemli-Opitz Syndrome
Dental crowding, Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Bifid uvul... OMIM:270400
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Deep philtrum, High palate, S... OMIM:300855
Klippel-Feil Syndrome 1, Autosomal Dominant
Cleft palate, Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Giant Cell Arteritis
Glossitis, Renal insufficiency, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, ... ORPHA:397
Hogue-Janssen Syndrome 2
Open mouth, Tented upper lip vermilion, Unilateral renal agenesis OMIM:616362
8Q24.3 Microdeletion Syndrome
Branchial cyst, Bilateral renal hypoplasia, Abnormal lung lobation, Cleft maxillary alveolar ridg... ORPHA:508488
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Intestinal malrotation, Stage... OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia, Microphthalmia, Cer... OMIM:613153
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Cat-Eye Syndrome
Microphthalmia, Short stature, Hearing impairment, Intrauterine growth retardation ORPHA:195
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... OMIM:178600
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular s... OMIM:612474
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Abnormal local... ORPHA:500
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment OMIM:120433
Zttk Syndrome
Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnorma... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Braddock Syndrome
Pulmonary fibrosis, Unilateral renal agenesis ORPHA:52047
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... OMIM:301043
Kimura Disease
Increased circulating IgE level ORPHA:482
Kallmann Syndrome With Spastic Paraplegia
Micropenis, High palate, Unilateral renal agenesis OMIM:308750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Sensorineural hearing impairm... OMIM:109120
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart morphology, Hydronep... ORPHA:2237
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Distal 22Q11.2 Microduplication Syndrome
Smooth philtrum, Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Patent ... ORPHA:261337
Pallister-Hall Syndrome
Renal dysplasia, Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication... OMIM:146510
Neu-Laxova Syndrome 1
Renal agenesis, Ventricular septal defect, Swollen lip, Cleft upper lip, Patent ductus arteriosus... OMIM:256520
Halperin-Birk Syndrome
Thick vermilion border, Perimembranous ventricular septal defect, High palate, Death in childhood OMIM:618651
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Cat Eye Syndrome
Atrial septal defect, Meckel diverticulum, Anal stenosis, Renal agenesis, Ventricular septal defe... OMIM:115470
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Atrial septal defect, Patent ductus arteriosus, Double outlet right ve... OMIM:614886
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Short stature, Microphthalmia, Agenesis of corpus callosum, Hearing im... OMIM:614583
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, H... OMIM:617506
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Cleft... OMIM:300712
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Renal agenesis, Renal hypopl... OMIM:615583
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S... ORPHA:90324
Acrocardiofacial Syndrome
Death in infancy, Hypoplasia of penis, Hypospadias, Mitral stenosis, Ventricular septal defect, C... ORPHA:2008
Congenital Toxoplasmosis
Microphthalmia, Failure to thrive in infancy, Hearing impairment, Intrauterine growth retardation ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Micr... OMIM:615181
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Wide nasal bridge OMIM:615524
Charge Syndrome
Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micropenis, Overri... OMIM:214800
Joubert Syndrome 23
Dysplastic corpus callosum, Sensorineural hearing impairment, Cerebellar dysplasia OMIM:616490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Patent ductus a... ORPHA:33001
Orofaciodigital Syndrome Xvii
Median cleft lip, High, narrow palate, Renal hypoplasia, Micropenis, Tetralogy of Fallot OMIM:617926
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... ORPHA:2473
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Cleft upper lip, Pat... OMIM:154400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Short nose, Hypoplasia of penis, Hydroureter ORPHA:2547
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Seckel Syndrome 2
Short stature, Small for gestational age, Growth delay, Cerebellar hypoplasia, Microphthalmia OMIM:606744
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomal... ORPHA:1120
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level OMIM:618048
Duodenal Atresia
Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Vesicoureteral reflux, Hypospadias,... ORPHA:353281
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Rena... ORPHA:464311
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of a... ORPHA:90348
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se... ORPHA:139466
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Bilate... OMIM:618021
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc... ORPHA:250989
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Facial palsy, Cerebellar hypoplasia, Microphthalmia, Cerebellar dys... OMIM:613155
Pentalogy Of Cantrell
Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Non-midl... ORPHA:1335
Restrictive Dermopathy
Ureteral duplication, Natal tooth, Hypospadias, Dextrocardia, Patent ductus arteriosus, Submucous... ORPHA:1662
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Cleft up... OMIM:164210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Cleft upper lip, Patent ductus arteriosus, Gingival overgrowth, Cleft ... OMIM:213980
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Tooth malposition, Renal hypop... OMIM:616541
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Small for gestational age, Sensorineural hearing impairment, Abnormality of t... OMIM:214150
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Short nose, Enlarged kidney OMIM:613885
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Cleft upper lip, Abnormal cardiac septum morphology, Stillbirth, Pulmo... OMIM:308050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Optic disc pallor, Short stature, Cerebellar hypoplasia OMIM:251270
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Vent... OMIM:220500
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia, Short stature OMIM:300915
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... OMIM:606812
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Hypoplastic aortic arch, Unilateral renal agenesis ORPHA:457284
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Ascending aorta hypoplasia, Deep philtrum, Downturned corners of mouth, High pal... OMIM:619503
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Cleft palate, Pulmonary... ORPHA:1908
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Pyloric stenosis, Patent ductu... ORPHA:464306
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Fanconi Anemia, Complementation Group B
Death in infancy, Renal agenesis, Ventricular septal defect, Esophageal atresia, Patent ductus ar... OMIM:300514
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Cutis Laxa, Autosomal Dominant 3
Tortuous cerebral arteries, Unilateral renal agenesis OMIM:616603
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Recombinant 8 Syndrome
Ventricular septal defect, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentiti... ORPHA:96167
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Growth delay, Microphthalmia, Intrauterine growth retardation, Hearing... OMIM:610756
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins OMIM:126320
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... ORPHA:513456
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Short stature, Microphthalmia, Agenesis of corpus ca... OMIM:300887
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, C... OMIM:617159
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta... OMIM:217085
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... OMIM:300963
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, High palate, Unilateral renal agenesis OMIM:308700
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Lateral ventricle ... ORPHA:77299
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Ventricular septal defect, Patent ... ORPHA:2962
Kawasaki Disease
Glossitis, Pericarditis, Proteinuria, Abnormal heart valve morphology, Recurrent pharyngitis, Myo... ORPHA:2331
Orofaciodigital Syndrome V
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Ventricular septal ... OMIM:174300
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Hearing impairment, Protruding ear, Growth delay, ... ORPHA:85284
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Hypospadias, Ventricular septal defect, Dextrocardia, Persistence of p... OMIM:300166
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Colpocephaly, Chiari malformation, Decreased body weight, ... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Cerebellar hypoplasia OMIM:614830
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Everted lower lip vermili... ORPHA:75389
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Atrial septal defect, Exaggerated median tongue furrow, Hypos... OMIM:312870
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Death in infancy, Hypospadias, Ventricular... ORPHA:7
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Cleft... ORPHA:163979
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Mmep Syndrome
Microphthalmia ORPHA:3434
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Optic disc pallor, Cerebellar hypoplasia OMIM:613730
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Pulmonic stenosis, Atrial septa... OMIM:618223
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, Micr... OMIM:243310
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
Deafness, X-Linked 7
Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external auditory canal, Sten... OMIM:301018
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Ve... ORPHA:567
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Perlman Syndrome
Distal ileal atresia, Nephrogenic rest, Tented upper lip vermilion, Renal hamartoma, Everted uppe... OMIM:267000
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Protruding tongue, Conotruncal defect, Coarctation of a... ORPHA:96147
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... ORPHA:370959
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis, Thin lower lip vermilion, Arteria ... ORPHA:221139
Mosaic Trisomy 1
Ventricular septal defect, Thick lower lip vermilion, Renal cyst, Coarctation of aorta, Renal cor... ORPHA:1692
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Pseudotrisomy 13 Syndrome
Renal agenesis, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricul... OMIM:264480
Adams-Oliver Syndrome 2
Optic atrophy, Protruding ear, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hyp... OMIM:614219
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Abnormality of peripheral nerve conduction, Intrauterine growth re... ORPHA:48431
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears, Micr... ORPHA:1438
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Cleft palate, Mit... OMIM:151100
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Patent ductus arteriosus, Stroke, Unilateral renal agenesis OMIM:618188
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Dental m... OMIM:616894
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Pallister-Hall Syndrome
Natal tooth, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Ectopic kidney, A... ORPHA:672
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Proboscis Lateralis
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Agenesis of canin... ORPHA:141099
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Agenesis of corpus callosum, Rhizomelia, Low-set ears ORPHA:93267
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... ORPHA:261494
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Mosaic Trisomy 16
Meckel diverticulum, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Abnormal l... ORPHA:1708
Lissencephaly 8
Retrocerebellar cyst, Microphthalmia, Optic atrophy, Cerebellar hypoplasia OMIM:617255
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Wolcott-Rallison Syndrome
Atrial septal defect, Renal insufficiency, Chronic kidney disease, Double outlet right ventricle ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Sensorineural hearing impairment, Cerebellar hypoplasia, Microphthalmia, ... OMIM:615249
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Loeys-Dietz Syndrome 4
Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... OMIM:614816
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Sensorineural hearing impairment, Microphthalmia, Inferior cerebellar vermis hypopl... ORPHA:139471
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Unilateral renal agenesis ORPHA:1064
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Peters Plus Syndrome
Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced... ORPHA:709
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Short stature, Abnormal auditory evoked potentials, Sensor... OMIM:619260
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Sensorineural hearing impairment, Optic atrophy ORPHA:1473
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Lateral... OMIM:617751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Dental malocc... OMIM:249420
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Carious teet... OMIM:614976
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Bilateral renal dysplasia, Unilateral renal ... ORPHA:500150
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... OMIM:617523
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, High palate, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353277
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Deep philtrum, Submucous cleft ... OMIM:619194
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus ... OMIM:617914
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... ORPHA:2328
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... OMIM:612562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Unilateral renal agen... ORPHA:268261
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Thick vermilion border, Pulmona... OMIM:620113
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Cerebellar malformation ORPHA:324416
Coffin-Siris Syndrome 4
Atrial septal defect, Everted upper lip vermilion, Thin upper lip vermilion, Ventricular septal d... OMIM:614609
Microphthalmia, Isolated 5
Microphthalmia, Optic disc pallor, Optic disc drusen OMIM:611040
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, EEG with burst suppression, Hypsarrhythmia OMIM:308350
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Cerebrooculofacioskeletal Syndrome 4
Short stature, Posteriorly rotated ears, Failure to thrive in infancy, Bilateral microphthalmos, ... OMIM:610758
Braddock-Carey Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Hearing impairment OMIM:619981
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Frontonasal Dysplasia 1
Conductive hearing impairment, Microphthalmia, Agenesis of corpus callosum, Low-set ears OMIM:136760
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Renal hypoplasia, Cleft... OMIM:614083
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Joubert Syndrome 22
Microphthalmia, Agenesis of cerebellar vermis, Intrauterine growth retardation OMIM:615665
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Hypospadias, Patent ductus arteriosus, Methylmalonic aciduria, ... ORPHA:17
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Short stature, Obesity, Low-set ears, Mic... OMIM:619185
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Low-set ears, Microphthalmia, Agenesis of corpus callosum, Intraut... ORPHA:228390
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Abnormal cerebellum morphology, Low-set ears OMIM:618652
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Patent ductus... OMIM:164280
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Scleromyxedema
Abnormal coronary artery morphology, Abnormality of the kidney, Transient ischemic attack, Abnorm... ORPHA:167635
Triploidy
Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Ir... ORPHA:3376
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Obesity OMIM:601794
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Meckel Syndrome, Type 2
Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Trisomy 13
Anophthalmia, Sensorineural hearing impairment, Optic atrophy, Aplasia/Hypoplasia of the iris, Ab... ORPHA:3378
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Failure to thrive in infancy, Cerebellar hypoplasia OMIM:618805
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hearing impairment, Postnatal gr... ORPHA:494344
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Gaucher Disease, Type Ii
Bronchiolitis, Death in infancy, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Growth delay, Microphthalmia, Agenesis of corpus callosum, Hearing impairment ORPHA:77298
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Recurrent respiratory infections, Natal tooth, Hypospadias, Persist... OMIM:610253
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental morphology, Abnormal den... ORPHA:2092
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Dental malocclusion, Hypodontia, Unilateral renal agenesis OMIM:101800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Obesity ORPHA:363741
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cleft palate, Perimembranous ventricular septal defect, Pulmonary hypoplasia, N... ORPHA:83617
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis,... OMIM:181270
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Postnatal gro... OMIM:193700
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Optic atrophy, Low-set ears, Microphthalmia, Failure to thrive OMIM:612379
Doors Syndrome
Short lingual frenulum, Nephrocalcinosis, Downturned corners of mouth, High palate, Widely spaced... ORPHA:79500
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of corpus callosum OMIM:614402
Marden-Walker Syndrome
Postnatal growth retardation, Cerebellar hypoplasia, Low-set ears, Microphthalmia, Inferior cereb... OMIM:248700
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Decreased b... OMIM:617306
Warburg Micro Syndrome 4
Cerebellar atrophy, Decreased motor nerve conduction velocity, Short stature, Optic atrophy, Seve... OMIM:615663
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Cerebellar hypoplasia, Low-set ears, Microphthalmia, Intrauterine grow... ORPHA:163966
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hearing impairment, Postnatal growth retardation, Microtia, Recurrent otitis media, Microphthalmi... ORPHA:2728
Frontonasal Dysplasia 3
Microphthalmia, Wide nasal bridge OMIM:613456
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Failure ... ORPHA:2470
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Pyloric stenosis, Thin vermilion border, Hypodontia, Long philtrum, An... OMIM:618419
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Cleft palate, Tongue nodules, Glossop... OMIM:311900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Seckel Syndrome 9
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:616777
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, High, narrow palate, Dilatation of the renal pelvis, Ante... ORPHA:95699
Trichothiodystrophy 3, Photosensitive
Short stature, Low-set ears, Microphthalmia, Intrauterine growth retardation, Failure to thrive, ... OMIM:616395
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Short stature, Decreased nerve conduction velocity, Sensorineural hearing imp... OMIM:610651
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pu... ORPHA:140952
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Microphallus, Narrow mouth, Abnormal renal collecting sys... ORPHA:468631
Warsaw Breakage Syndrome
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short stature, Abnorm... ORPHA:85194
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, High palate, Median cleft palate, Conotruncal defect ORPHA:40366
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... OMIM:308205
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Long penis, Nephrolith... OMIM:135500
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Cleft palate, Orofacial cleft, S... ORPHA:280200
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... ORPHA:268810
Tetrasomy 9P
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Patent for... ORPHA:3310
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Short stature, Obesity ORPHA:3191
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... ORPHA:2437
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Short philtrum, ... ORPHA:261537
Caffey Disease
Increased circulating antibody level ORPHA:1310
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Simple ear OMIM:619318
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology... ORPHA:138
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Coloboma OMIM:614424
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic ... OMIM:157800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Orofaciodigital Syndrome Vi
Renal agenesis, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Coar... OMIM:277170
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Optic atrophy, Protruding ear, Cerebellar hypoplasia, Low... ORPHA:899
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Short philtrum, ... ORPHA:261552
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... OMIM:609192
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Low-set ears, Microphthalmia, Intrauterine growth retardation OMIM:300863
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Macrotia OMIM:619694
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Neurocutaneous Melanocytosis
Meningocele, Chorioretinal coloboma ORPHA:2481
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Temtamy Syndrome
Microphthalmia, Low-set ears ORPHA:1777
Toriello-Carey Syndrome
Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p... ORPHA:3338
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Large earlobe OMIM:602501
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous... OMIM:175050
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Neurofaciodigitorenal Syndrome
Abnormality of the philtrum, Abnormal oral mucosa morphology, Unilateral renal agenesis ORPHA:2673
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos OMIM:615085
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Microphthalmia With Limb Anomalies
Anophthalmia, Posteriorly rotated ears, Postnatal growth retardation, Growth delay, Low-set ears,... OMIM:206920
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, EEG with focal spike waves, EEG with irregular generalized spi... ORPHA:1942
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Temtamy Syndrome
Microphthalmia, Agenesis of corpus callosum, Lop ear, Low-set ears OMIM:218340
Micro Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebell... ORPHA:2510
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Cleft palate, Abnormal cardiac septum morphology, Ax... ORPHA:3320
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Renal agenesis, Ventricular septal defect, B... ORPHA:1199
Atypical Werner Syndrome
Renal neoplasm, Prominent superficial veins, Abnormal cerebral vascular morphology, Aortic valve ... ORPHA:79474
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation OMIM:602200
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Esophageal varix, Arteriovenous malformation, Pulmonary arte... ORPHA:974
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Alzahrani-Kuwahara Syndrome
Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Narro... OMIM:619268
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Low-set ears, Microphthalmia, Agenesis of corpus... ORPHA:2189
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Anophthalmia, Postnatal growth retardatio... ORPHA:90321
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... OMIM:153400
Cockayne Syndrome B
Severe short stature, Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evo... OMIM:133540
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Failure to thrive OMIM:602361
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Spina bifida ORPHA:1327
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Ventricular septal defect, Miscarriage, Pulmonary artery stenosis, De... ORPHA:96334
Marden-Walker Syndrome
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab... ORPHA:2461
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lateral ventricle dilatation, Lens coloboma, Cupped ear OMIM:618914
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pinna morphology, Postnatal growth retardation, Microphthalmia, Failure to t... OMIM:302960
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo... OMIM:615559
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia ORPHA:3240
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Partial absence of cerebellar vermis, Buphthalmos, Cerebellar hypoplasia, M... OMIM:613150
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Optic atrophy, Growth delay, Microphthalmia, Macrotia OMIM:234050
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Stevenson-Carey Syndrome
Microphthalmia, Posteriorly rotated ears, Cerebellar hypoplasia, Low-set ears OMIM:611961
Monosomy 18P
Short stature, Protruding ear, Abnormal antihelix morphology, Microphthalmia, Macrotia ORPHA:1598
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Stillbirth, Cerebellar hypoplasia, Low-set ... OMIM:243605
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Intestinal malrotation... ORPHA:2538
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Multifocal epileptiform discharges, EEG abnormality, Low... ORPHA:369891
Chromosome 13Q33-Q34 Deletion Syndrome
Posteriorly rotated ears, Short stature, Small for gestational age, Microphthalmia, Agenesis of c... OMIM:619148
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Wide nasal bridge OMIM:167730
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma ORPHA:2839
Pgm3-Cdg
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:443811
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Rodrigues Blindness
Microphthalmia, Short stature, Protruding ear OMIM:268320
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Patent ductus arter... ORPHA:84064
Hardikar Syndrome
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Cleft soft ... OMIM:301068
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia OMIM:619053
Otodental Syndrome
High-frequency sensorineural hearing impairment, Lens coloboma, Otitis media with effusion, Progr... ORPHA:2791
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy OMIM:616881
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Severe postnatal ... ORPHA:2399
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Short nose, Oligosacchariduria ORPHA:163649
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Short stature OMIM:617883
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst OMIM:611561
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida o... OMIM:613686
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia, Iri... ORPHA:2789
Meester-Loeys Syndrome
Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurys... OMIM:300989
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Dental crowding, Hiatus hernia, Vertebral artery tortuosity, Celiac a... OMIM:619329
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta ORPHA:2311
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature, Hearing impairment, Protruding ear ORPHA:1806
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Dental crowding, Open bite, High, narrow pa... ORPHA:558
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranencephaly ORPHA:1393
X-Linked Dominant Chondrodysplasia Punctata
Abnormal pinna morphology, Short stature, Sensorineural hearing impairment, Severe postnatal grow... ORPHA:35173
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary artery stenosis, Cle... OMIM:100300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T... ORPHA:331206
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Microtia, Cerebellar hypoplasia, Cerebellar m... OMIM:236670
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Secundum atrial septal defect, Recurrent pneumonia, Subarterial ventri... ORPHA:99646
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Multiple small med... OMIM:118450
Trisomy 10P
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Fanconi Anemia
High palate, Atrial septal defect, Hypospadias, Aplasia/Hypoplasia of the uvula, Patent ductus ar... ORPHA:84
Joubert Syndrome 2
Agenesis of cerebellar vermis, Optic disc coloboma, Low-set ears, Dysgenesis of the cerebellar ve... OMIM:608091
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Hyperlysinemia
Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Hyperlysinuria, Decrea... ORPHA:2203
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia, Short nose, Failure to thrive ORPHA:65286
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:615758
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, Abnormal auditory evoked potent... ORPHA:99027
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Abnormal lung lobation, Cleft palate, Coarcta... ORPHA:1052
Bartsocas-Papas Syndrome 2
Microphthalmia, Overfolded helix, Low-set ears OMIM:619339
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft, Abnormal localizat... ORPHA:3186
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Postnatal growth retardation, Severe intrauterine growth retardation, L... OMIM:241410
3Q29 Microduplication Syndrome
Obesity, Low-set ears, Aniridia, Microphthalmia, Hearing impairment ORPHA:251038
Amish Lethal Microcephaly
Agenesis of corpus callosum, Spina bifida ORPHA:99742
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Protruding ear, Low-set ears, Microphthalmia, Inferior cerebellar vermis hypoplasia OMIM:618571
Bor Syndrome
Branchial cyst ORPHA:107
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia, Macrotia, Optic atrophy OMIM:614222
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Cerebellar vermis hypoplasia OMIM:619135
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Chiari type I malformation OMIM:617244
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Diamond-Blackfan Anemia
Radial artery aplasia, Renal agenesis, Hypospadias, Ventricular septal defect, Cleft soft palate,... ORPHA:124
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Cupped ear, Microtia, Microphthalmia, Intrauterine growth retardation ORPHA:1352
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Dandy... OMIM:613001
Warburg Micro Syndrome 2
Asymmetry of the ears, Postnatal growth retardation, Optic atrophy, Microphthalmia, Macrotia OMIM:614225
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Cohen Syndrome
Short stature, Failure to thrive in infancy, Sensorineural hearing impairment, Aplasia/Hypoplasia... ORPHA:193
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Optic atrophy, Protruding ear OMIM:152950
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Nance-Horan Syndrome
Microphthalmia, Protruding ear ORPHA:627
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Short stature, Small for gestational age, Optic atrophy, Hypoplasia of the ir... OMIM:251300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal defect... OMIM:617925
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microtia, Cerebellar hypoplasia, Low-set ears, Microphthalmia OMIM:612530
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Miscarriage, Deep philtrum, Pulmonary artery hyp... OMIM:245150
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Microtia, Cerebellar hypoplasia,... OMIM:614643
Mend Syndrome
Short stature, Abnormal auditory evoked potentials, Low-set ears, Microphthalmia, Failure to thri... ORPHA:401973
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Fanconi Anemia, Complementation Group F
Short stature, Microtia, Conductive hearing impairment, Microphthalmia, Failure to thrive, Intrau... OMIM:603467
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... ORPHA:99776
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Dental malocclusion, Cleft pa... ORPHA:284984
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Short stature, Low-set ears, Microphthalmia, Failure to thrive, Intrauterine ... OMIM:617729
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short neck, Hydrocephalus, Meningocele, Patent ... OMIM:130720
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Short stature OMIM:169550
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermil... ORPHA:1519
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mes... ORPHA:2044
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, High palat... OMIM:614437
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Optic atrophy, Microtia, Microphthalmia, Agenesis of corpus callosum ORPHA:3301
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Rectal fistula, Fetal pyelectasis... ORPHA:49
Frontofacionasal Dysplasia
Microphthalmia, Short nose ORPHA:1791
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Aplasia... OMIM:617088
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Low-set ears, Microphthalmia, Overfolded helix, Dandy-Walker malformati... OMIM:156610
Familial Exudative Vitreoretinopathy
Microphthalmia, Abnormal optic disc morphology, Hearing impairment ORPHA:891
Moebius Syndrome
Microphthalmia, Facial diplegia, Abnormal pinna morphology OMIM:157900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Renpenning Syndrome 1
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Macrodontia, Phimosis, Situs in... OMIM:309500
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Orofacial cleft, High palate, Aortic dissection, A... ORPHA:60030
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Hydrocephalus, Anencephaly, Retinal coloboma, Atrial septal defect, Occipital meningo... OMIM:616546
Cockayne Syndrome A
Cerebellar atrophy, Short stature, Abnormal pinna morphology, Abnormal auditory evoked potentials... OMIM:216400
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... ORPHA:3380
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Agenesis of corpus callosum ORPHA:1827
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Neurocardiofaciodigital Syndrome
Atrial septal defect, Patent ductus arteriosus, Double inlet left ventricle, Thin vermilion borde... OMIM:619869
Mycophenolate Mofetil Embryopathy
Anotia, Microtia, Atresia of the external auditory canal, Microphthalmia, Agenesis of corpus call... ORPHA:268249
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Short stature, External ear malformation, Optic disc coloboma,... ORPHA:568
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Mowat-Wilson Syndrome
Delayed eruption of teeth, Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Ventri... OMIM:235730
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Microphthalmia, Agenesis of corpus callosum, Uplifted earlobe OMIM:616449
Oculofaciocardiodental Syndrome
Microphthalmia, Sensorineural hearing impairment, Hearing impairment ORPHA:2712
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Fanconi Anemia, Complementation Group E
Small for gestational age, Microphthalmia, Short stature, Hearing impairment OMIM:600901
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Linear Nevus Sebaceus Syndrome
Growth delay, EEG abnormality, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walker... ORPHA:2612
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Kapur-Toriello Syndrome
Conductive hearing impairment, Microphthalmia, Low-set ears, Intrauterine growth retardation OMIM:244300
Refsum Disease
Microphthalmia, Sensorineural hearing impairment ORPHA:773
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cerebellar vermis hypoplasia, Cerebellar cyst OMIM:616538
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Wide nasal bridge ORPHA:404440
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:607597
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Large earlobe, Low-set ears, Microphthalmia, Failure to thrive OMIM:257850
3P25.3 Microdeletion Syndrome
Microphthalmia, Sensorineural hearing impairment, Abnormality of the outer ear ORPHA:435638
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia, Small earlobe, Failure to thrive, Hearing impair... ORPHA:364577
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Optic disc pallor, Abnormal auditory... ORPHA:909
Frontonasal Dysplasia 2
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Low-set ears, Microphthalmia, Intrau... OMIM:613451
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Microphthalmia, Short stature, External ear malformation ORPHA:2505
Fanconi Anemia, Complementation Group A
Small for gestational age, Microphthalmia, Short stature, Hearing impairment OMIM:227650
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck OMIM:613776
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... ORPHA:2298
Aicardi Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Partial agenesis of the corpus callos... OMIM:304050
Osteogenesis Imperfecta, Type Vii
Death in infancy, Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis imperfecta... OMIM:610682
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum, Iris coloboma OMIM:601707
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Low-set ears, Intrauterine growth retardation OMIM:251230
Ohdo Syndrome, X-Linked
Posteriorly rotated ears, Microtia, Low-set ears, Decreased body weight, Microphthalmia, Stenosis... OMIM:300895
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Protruding ear, Microphthalmia, Macrotia OMIM:601675
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Chromosome 8Q21.11 Deletion Syndrome
Sensorineural hearing impairment, Protruding ear, Growth delay, Low-set ears, Microphthalmia OMIM:614230
Aicardi Syndrome
Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, Protruding ear, EEG ... ORPHA:50
Fanconi Anemia, Complementation Group C
Small for gestational age, Short stature, Microphthalmia, Intrauterine growth retardation, Hearin... OMIM:227645
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... OMIM:618986
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:613011
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Congenital Fibrinogen Deficiency
Microphthalmia, Micropenis ORPHA:335
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macrotia, Low-set ears OMIM:615145
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Colpocephaly, Microphthalmia, Agenesis of corpus callosum, Hearing impairment OMIM:309801
Leishmaniasis
Increased circulating antibody level ORPHA:507
Neu-Laxova Syndrome 2
Spina bifida, Short neck OMIM:616038
Femoral-Facial Syndrome
Thin upper lip vermilion, Renal agenesis, Ventricular septal defect, Abnormal renal collecting sy... OMIM:134780
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Low-set ears, Microphthalmia, Agenesis of corpus callos... OMIM:227646
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Marfan Syndrome
Bicuspid aortic valve, Dental crowding, Emphysema, Pneumothorax, Mitral annular calcification, Na... OMIM:154700
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Iris coloboma ORPHA:861
Cousin Syndrome
Rhizomelia, Posteriorly rotated ears, Disproportionate short stature, Low-set ears, Microphthalmi... OMIM:260660
Stuve-Wiedemann Syndrome 1
Death in infancy, Pursed lips, Carious teeth, Pulmonary arterial medial hypertrophy, Thin vermili... OMIM:601559
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Wide nasal bridge OMIM:620098
Martsolf Syndrome 1
Short stature, Posteriorly rotated ears, Low-set ears, Microphthalmia, Prominent antitragus OMIM:212720
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart... ORPHA:1606
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Iris coloboma OMIM:109400
Histiocytoid Cardiomyopathy
Optic atrophy, Cerebellar malformation, Microphthalmia, Failure to thrive, Agenesis of corpus cal... ORPHA:137675
Premature Aging Syndrome, Penttinen Type
Retrocerebellar cyst, Microphthalmia, Sensorineural hearing impairment, Failure to thrive OMIM:601812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Stillbirth, Cerebellar hypoplasia, Microphthalmia, Macrotia, Dandy-Walker malformation OMIM:616300
Tetraamelia Syndrome 1
Renal agenesis, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft palate, Urethral atre... OMIM:273395
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Postnatal growth retardation, Sensorineural hearing... ORPHA:959
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Kenny-Caffey Syndrome, Type 2
Papilledema, Severe short stature, Small for gestational age, Short stature, Microphthalmia OMIM:127000
Momo Syndrome
Short stature, Underfolded helix, Large for gestational age, Bilateral microphthalmos, Obesity ORPHA:2563
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Abnormal pinna morphology,... OMIM:616975
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... ORPHA:35078
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Hypospadias, Unilateral microphthalmos OMIM:618874
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Trisomy 20P
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck ORPHA:261318
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... ORPHA:99106
Teebi-Shaltout Syndrome
Ureteral stenosis, Wide nasal bridge, Horseshoe kidney, Microphthalmia, Hydronephrosis OMIM:272950
8Q21.11 Microdeletion Syndrome
Microphthalmia, Low-set ears, Hearing impairment ORPHA:284160
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Oculo-Palato-Cerebral Syndrome
Short stature, Thickened helices, Microphthalmia, Macrotia, Intrauterine growth retardation ORPHA:2714
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Chromosome 13Q14 Deletion Syndrome
Anteverted ears, Growth delay, Low-set ears, Microphthalmia, Agenesis of corpus callosum, Hearing... OMIM:613884
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Meningocele, Lateral ventricle dilatation, Colpocep... ORPHA:397715
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Jacobsen Syndrome
Hypospadias, Macular hypoplasia, Microphthalmia, Short nose, Failure to thrive OMIM:147791
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Low-set ears ORPHA:464738
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Frontorhiny
Low-set, posteriorly rotated ears, Microphthalmia, Congenital conductive hearing impairment ORPHA:391474
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614700
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia,... OMIM:607323
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Monosomy 9Q22.3
Large for gestational age, Chiari malformation, Low-set ears, Microphthalmia, Thickened ears ORPHA:77301
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Protruding ear, Hypoplasia of the iris, Otitis media... OMIM:223370
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Pro... OMIM:610829
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, Widely spaced te... ORPHA:2152
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Optic disc coloboma, Chorioretinal coloboma, Iris coloboma OMIM:234100
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Norrie Disease
Failure to thrive, Aplasia/Hypoplasia of the lens, Cachexia, Sensorineural hearing impairment, Op... ORPHA:649
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level ORPHA:79078
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Optic disc coloboma, Atrial septal defect, Patent foramen ovale, Iri... OMIM:620186
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Wide nasal bridge OMIM:618727
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Sensorineural hearing impairment OMIM:278730
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Mixed hearing impairment, Optic atrophy, Short stature OMIM:201180
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, High urinary gonadotropin level... ORPHA:881
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Anophthalmia, Abnormality of the ear, Abnormal earlobe morphology, Growth d... ORPHA:2556
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Wide nasal bridge OMIM:110100
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Isolated Arrhinia
Microphthalmia, Aplasia of the nose ORPHA:1134
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Pneumocystosis
Increased circulating antibody level ORPHA:723
Nance-Horan Syndrome
Microphthalmia, Macrotia OMIM:302350
Yunis-Varon Syndrome
Short stature, Abnormal pinna morphology, Postnatal growth retardation, Bilateral microphthalmos,... ORPHA:3472
Fryns Syndrome
Aganglionic megacolon, Large for gestational age, Stillbirth, Low-set ears, Abnormal helix morpho... OMIM:229850
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Short neck, Hypoplastic left heart, Webbed neck, Aortic ... ORPHA:2308
Myhre Syndrome
Short stature, Small for gestational age, Hearing impairment, Obesity, Birth length less than 3rd... OMIM:139210
Trichothiodystrophy
Partial agenesis of the corpus callosum, Bilateral microphthalmos, Protruding ear, Bilateral sens... ORPHA:33364
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Rothmund-Thomson Syndrome, Type 2
Short stature, Underfolded helix, Small for gestational age, Prominent antihelix, Microphthalmia,... OMIM:268400
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Failure... OMIM:608670
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Small for gestational age,... OMIM:612289
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina, Cere... OMIM:253280
Brucellosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:1304
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma, Short stature, Low-set ears ORPHA:251014
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Atr... OMIM:619480
Steinfeld Syndrome
Microphthalmia, Abnormal pinna morphology, Hearing impairment OMIM:184705
Nail-Patella Syndrome
Spina bifida OMIM:161200
Meckel Syndrome, Type 1
Dilated fourth ventricle, Chiari malformation, Cerebellar hypoplasia, Low-set ears, Microphthalmi... OMIM:249000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Microphthalmia, Agenesis of corpus callosum, Low-set, posteriorly ... ORPHA:306542
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Large earlobe, Microphthalmia, F... ORPHA:1106
Lathosterolosis
Meningocele ORPHA:46059
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Stenosis of the ex... OMIM:612109
Monosomy 9P
Abnormal antihelix morphology, Anotia, Microtia, Atresia of the external auditory canal, Low-set ... ORPHA:261112
Selective Igm Deficiency
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:331235
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Stillbirth, Low-set ears, Microphthalmia, Agenesis of corpus callosum,... OMIM:236680
Degcags Syndrome
Failure to thrive, Posteriorly rotated ears, Small for gestational age, Hearing impairment, Senso... OMIM:619488
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia OMIM:619879
Townes-Brocks Syndrome
Short stature, External ear malformation, Abnormal tragus morphology, Chiari malformation, Microt... ORPHA:857
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Monosomy 13Q14
Short stature, Protruding ear, Low-set ears, Thickened helices, Microphthalmia, Intrauterine grow... ORPHA:1587
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... ORPHA:79329
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:508533
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Branchiooculofacial Syndrome
Anophthalmia, Agenesis of cerebellar vermis, Posteriorly rotated ears, Hearing impairment, Facial... OMIM:113620
Holoprosencephaly 1
Microphthalmia, Agenesis of corpus callosum, Short stature, Cerebellar hypoplasia OMIM:236100
Witteveen-Kolk Syndrome
Glue ear, Short stature, Small for gestational age, Hearing impairment, Uplifted earlobe, Dysplas... OMIM:613406
Microphthalmia, Syndromic 6
Failure to thrive, Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Protruding ear, Cere... OMIM:607932
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe postnatal growth retardation, Microtia, Low-set ears, Microphthalmia, Intrauterine growth ... OMIM:620005
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Large earlobe, Hypoplasia of the ear cartilage ORPHA:1236
Ataxia-Telangiectasia
Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati... OMIM:208900
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Incontinentia Pigmenti
Microphthalmia, Short stature, Hearing abnormality ORPHA:464
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias, Aplasia of the nose OMIM:603457
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay,... ORPHA:93325
Phocomelia, Schinzel Type
Meningocele, Short neck ORPHA:2879
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Transient ischemic attack, Juven... ORPHA:2929
Oculodentodigital Dysplasia
Microphthalmia, Short nose, Neurogenic bladder OMIM:164200
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Optic atrophy, Short stature OMIM:308300
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Atelis Syndrome 2
Microphthalmia, Low-set ears, Protruding ear OMIM:620185
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Wide nasal bridge, Horseshoe kidney, Micropenis, Microphthalmia, Short nose OMIM:609945
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Roberts Syndrome
Postnatal growth retardation, External ear malformation, Severe intrauterine growth retardation, ... ORPHA:3103
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Atrial septal defect, Atrioven... OMIM:274000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Oculocerebrorenal Syndrome Of Lowe
Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasis, Oligosacchari... ORPHA:534
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Cerebellar hypoplasia ORPHA:2166
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Focal Dermal Hypoplasia
Mixed hearing impairment, Anophthalmia, Short stature, Optic atrophy, Chiari malformation, Low-se... OMIM:305600
Hallermann-Streiff Syndrome
Microphthalmia, Cerebellar hypoplasia, Proportionate short stature ORPHA:2108
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Bartsocas-Papas Syndrome 1
Microphthalmia, Short nose, Micropenis, Ectopic kidney OMIM:263650
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Microphthalmia... OMIM:616734
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Optic atrophy, Protruding ear, Microphthalmia ORPHA:2526
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the iris,... ORPHA:564
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Cyclopia, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Cyclopia, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Cyclopia, Agenesis of corpus callosum ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Cyclopia, Agenesis of corpus callosum ORPHA:220386
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Vici Syndrome
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... OMIM:242840
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Arima Syndrome
Occipital meningocele, Chorioretinal coloboma OMIM:243910
Frontofacionasal Dysplasia
Microphthalmia, Short nose OMIM:229400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity ORPHA:505248
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Wide nasal bridge, ... ORPHA:2052
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Unilateral deafness, Lens coloboma, Cupped ear, Anterior ... OMIM:619539
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Narrow mouth, Pleural e... OMIM:606721
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Otopalatodigital Syndrome, Type Ii
Spina bifida, Short neck, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Fraser Syndrome 1
Anophthalmia, Abnormal pinna morphology, Bilateral microphthalmos, Cupped ear, Atresia of the ext... OMIM:219000
Holoprosencephaly 2
Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:157170
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Bilateral microphthalmos, ... OMIM:154500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level OMIM:618278
Roberts-Sc Phocomelia Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Postnatal growth retardation, Stillbirth, Se... OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hypoplasia of the iris, Peripapillary atrophy, Microphthalmia, Facial paralysis OMIM:175780
Microphthalmia, Syndromic 1
Anophthalmia, Abnormal pinna morphology, Aganglionic megacolon, Optic disc coloboma, Growth delay... OMIM:309800
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Broad neck, Short neck OMIM:276820

Histopathology

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

There is no histopathology data for Rere

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Reretm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Reretm297939(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Reretm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Reretm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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