Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nitrogen permease regulator-like 3
Synonyms:
HS-26,  -14 gene,  Mare,  Prox1,  HS-40,  m(alpha)RE,  Phg

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nprl3 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 Nprl3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Epilepsy, Familial Focal, With Variable Foci 3
OMIM:617118

The table below shows human diseases predicted to be associated to Nprl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Thin upper lip vermilion,... OMIM:601927
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Transposition of the great arterie... OMIM:231060
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Intrauterine growth... OMIM:617022
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Stillbirth, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:294975
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal lower lip morphology, Abnormal aortic morphology, C... ORPHA:1166
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Webbed neck, Tetralogy of Fallot, Right aortic arch, ... OMIM:617478
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Decreased liver function, Ascites, Intrauterine growth reta... OMIM:617021
Skraban-Deardorff Syndrome
Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula... OMIM:617616
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Klippel-Trénaunay Syndrome
Cellulitis, Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Asc... ORPHA:90308
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Thin upper lip vermilion, Persistent left superior vena cava, Overriding aor... ORPHA:3304
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weakness, Patent fo... ORPHA:477817
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... ORPHA:980
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615297
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Cleft lip, Camptodactyly of finger, Thick lower lip... OMIM:616920
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic ... OMIM:620642
Meacham Syndrome
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... OMIM:608978
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Ventricular septal defect, Elevated circulating a... OMIM:613759
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Ventricular septal defect, Neonatal death, Atrial septal defect,... OMIM:601186
Ethanolaminosis
Cardiomegaly OMIM:227150
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Atrial septal defect, Patent ... ORPHA:2255
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, ... OMIM:618316
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moyamoya phenom... OMIM:300845
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Intestinal malrotation, He... ORPHA:3426
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep... OMIM:618280
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Transient Neonatal Diabetes Mellitus
Umbilical hernia, Abnormal heart morphology, Intrauterine growth retardation, Macroglossia, Dehyd... ORPHA:99886
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Atypical scarring of skin, Periodontitis, Umbilical hernia, Gingival recession... OMIM:617174
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Strok... ORPHA:49827
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Polyhydramnios, High palate, Arthrogryposis multiplex... OMIM:615731
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Abnormality of the pulmonary artery, Ventricular s... ORPHA:290
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Pierre Robin Syndrome
Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect ORPHA:306550
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Cherry red spot of the macula, Hepatosplenomegaly, Umbil... ORPHA:93400
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Dextrocardia
Webbed neck, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal... ORPHA:1666
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Umbilical hernia, Lymphedema, Thick uppe... OMIM:239850
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, In... OMIM:616145
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Coffin-Siris Syndrome 3
Long philtrum, Umbilical hernia, Abnormal heart morphology, Intrauterine growth retardation, Wide... OMIM:614608
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ... ORPHA:363705
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Inguinal ... ORPHA:250989
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Prot... OMIM:612938
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... OMIM:208050
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... ORPHA:101028
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Abnormal lung lobation, Intrauterine growth retardation, Abnorm... ORPHA:2516
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Umbilical hernia, Abnormal heart morpholog... ORPHA:352490
Feingold Syndrome 1
Accessory spleen, Interrupted aortic arch, Annular pancreas, Polysplenia, Duodenal atresia, Thick... OMIM:164280
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Visceromegaly, Everted upper lip vermilion, Volvul... OMIM:267000
Fryns Syndrome
Congenital diaphragmatic hernia, Short neck, Anal atresia, High palate, Non-midline cleft of the ... ORPHA:2059
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Craniofacioskeletal Syndrome
Interrupted aortic arch, Intrauterine growth retardation, Absent gallbladder, Ventricular septal ... OMIM:300712
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Sp... OMIM:256550
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Webbed neck, Atypical scarring of skin, Aortic root aneurysm, Umbilical hernia, Atrop... OMIM:618000
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Umbilical her... OMIM:619769
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic... OMIM:309801
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Bicuspid aor... OMIM:619656
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Small hypothenar eminence, Contracture of the proximal interpha... ORPHA:2872
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Elevated circulating hep... ORPHA:17
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Pallor, Rag... OMIM:613561
Eng-Strom Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal cardiac septum morphology, C... ORPHA:1937
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, ... ORPHA:3386
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Elevated circulating hepatic transaminase concentration, Intrauterine growth retardat... OMIM:301056
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Thin upper lip vermilion,... ORPHA:163979
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Alg3-Cdg
Cardiomyopathy, Decreased liver function, Lipodystrophy, Coarctation of the descending aortic arc... ORPHA:79321
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Everted lower lip vermilion, Patent... OMIM:249670
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Maternal Phenylketonuria
Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart morphology, Intrauteri... ORPHA:2209
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Pallor, Splenomegaly, Hepatomegaly, Polyhydramnios, Hy... ORPHA:163596
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Open mouth, Patent foramen oval... ORPHA:500159
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Downturned corners of mouth, Diastema, Umbilical hernia, Inguinal hernia, Patent foramen ovale, V... ORPHA:329224
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, E... ORPHA:261120
De Barsy Syndrome
Delayed eruption of teeth, Decreased muscle mass, Prominent veins on trunk, Umbilical hernia, Int... ORPHA:2962
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Abnormal heart morphology, Intestinal malrotation, Truncus arteriosus, Ventricular... ORPHA:401935
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Noonan Syndrome With Multiple Lentigines
Webbed neck, Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Int... ORPHA:500
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Patent ... OMIM:619717
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Umbilical hernia, Intrauterine growth retardation, Open mouth, Ventricular s... OMIM:617751
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Sialidosis Type 2
Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, ... ORPHA:87876
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... OMIM:616652
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Ascites, Intrauteri... OMIM:253250
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
Juvenile Sialidosis Type 2
Visceromegaly, Umbilical hernia, Abnormal heart morphology, Cherry red spot of the macula, Hepato... ORPHA:93399
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Ventricular septal defect, Hepatom... OMIM:614876
Pseudo-Torch Syndrome 1
Cleft lip, Elevated circulating hepatic transaminase concentration, Long philtrum, Umbilical hern... OMIM:251290
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Oligohydr... OMIM:606003
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Feingold Syndrome Type 1
Interrupted aortic arch, Duodenal atresia, Abnormal heart morphology, Multiple muscular ventricul... ORPHA:391641
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... OMIM:115470
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, Bicuspid aorti... ORPHA:91387
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Intrauterine growth retardation, Ventricular septal de... ORPHA:2876
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Inguinal hernia OMIM:615542
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Ventricular septal defect, Short neck, Atrial septal defect, Dysplastic ao... OMIM:601808
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Thin vermilion border ORPHA:3303
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal de... OMIM:618652
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion border, Pulmonic s... ORPHA:251076
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, P... ORPHA:363618
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:269920
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal dental morpholo... OMIM:612582
Cirrhotic Cardiomyopathy
Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Jaundice,... ORPHA:57777
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276556
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomegaly, Recurrent respirator... OMIM:620210
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Focal pa... ORPHA:276575
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, High palate, Atrial septal defect, Umbilical hernia ORPHA:1035
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul... OMIM:301068
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Digeorge Syndrome
Hepatic steatosis, Ventricular septal defect, High palate, Patent ductus arteriosus, High, narrow... OMIM:188400
Snijders Blok-Campeau Syndrome
Umbilical hernia, Widely spaced teeth, Inguinal hernia, Taurodontia, Perimembranous ventricular s... OMIM:618205
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... OMIM:620135
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Open mouth, Abnormal oral cavity morphology, Short neck, Short philtrum, Patent... ORPHA:1516
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Inguinal hernia, Patent foramen ovale, Splenomegaly, Portal vein... OMIM:616028
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Sinus tachycardia, Umbilical hernia, Biventricular hypertrophy, Inguinal ... OMIM:620504
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Downturned corners of mouth, Umbilical hernia, Abnormal heart m... ORPHA:369891
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Rectal prolapse, Ascites, Inguinal hernia, Vascular dilatation, Pyloric stenos... OMIM:613177
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Abnormal pleura morphology, Pallor, Abnorma... ORPHA:3099
Tetrasomy 15Q26
Intrauterine growth retardation, Atrial septal defect, High palate, Camptodactyly, Hypoplastic ao... OMIM:614846
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar... ORPHA:1131
Lateral Meningocele Syndrome
Keloids, Dental crowding, Decreased muscle mass, Umbilical hernia, Long philtrum, Inguinal hernia... OMIM:130720
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Cigarette-paper scars, Umbilical hernia, Bowel diverticulosis, Inguinal her... OMIM:130000
Fliedner-Zweier Syndrome
Long philtrum, Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal ... OMIM:620511
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Oligohydra... ORPHA:261311
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276580
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Short neck, Atrial septal ... OMIM:617506
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Umbilical hernia, Mitral... OMIM:618164
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal ... ORPHA:2515
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia... OMIM:219100
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Supraventr... ORPHA:404443
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Glossopt... ORPHA:1388
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Gingival overgrowth, Inguin... ORPHA:137834
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Narrow mouth, Ventricular septal defect, Atrial septal defect, Pul... OMIM:235510
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Webbed neck, Tooth malposition, Widened atrophic scar, Aortic root aneurysm, Periodon... ORPHA:536532
Lambert Syndrome
Cholestasis, Intrauterine growth retardation, Branchial anomaly, Inguinal hernia, Ventricular sep... ORPHA:1296
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Median cleft upper lip, Overriding aorta, Orofacial clef... ORPHA:3186
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Carpenter Syndrome 1
Joint contracture of the hand, Polysplenia, Umbilical hernia, Tetralogy of Fallot, Agenesis of pe... OMIM:201000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac... OMIM:619167
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated circulating alanine aminot... OMIM:614921
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Phenobarbital Embryopathy
Tetralogy of Fallot, Unilateral cleft lip, Abnormal mitral valve morphology ORPHA:1919
Autosomal Recessive Spondylocostal Dysostosis
Long philtrum, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, Congen... ORPHA:2311
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine growth retardation... ORPHA:858
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, High, n... ORPHA:1900
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:1909
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra... ORPHA:99104
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Rin2 Syndrome
Abnormal lip morphology, Umbilical hernia, Long philtrum, Upper eyelid edema, Gingival overgrowth... ORPHA:217335
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Bilateral trilobed lung, Omphalocele, Thin ... OMIM:613630
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal de... OMIM:618624
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Dry skin, Open mouth, Ventricular septal defect, Elevated circulat... OMIM:280000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Dental crowding, Long philtrum, Umbilical hernia, ... OMIM:620654
Giant Cell Arteritis
Vasculitis, Epistaxis, Mediastinal lymphadenopathy, Hepatic failure, Skin ulcer, Double outlet ri... ORPHA:397
Fg Syndrome Type 1
Abnormal large intestine morphology, Dental crowding, Long philtrum, Facial wrinkling, Umbilical ... ORPHA:93932
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Downturned corners of mouth, Recurrent respiratory infectio... ORPHA:163956
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Focal Dermal Hypoplasia
Erythema, Open bite, Acute hepatic failure, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:2092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Camp... OMIM:175700
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Ventricular septal defect, Overridin... OMIM:101200
Williams Syndrome
Carious teeth, Open bite, Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve... ORPHA:904
Renal Tubular Dysgenesis
Tetralogy of Fallot, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia ORPHA:3033
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:2143
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Exa... OMIM:615879
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep... OMIM:615524
Paternal Uniparental Disomy Of Chromosome 6
Abdominal wall defect, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Gingiv... ORPHA:96191
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Hyperekplexia 4
Umbilical hernia, Inguinal hernia, Distal arthrogryposis, High palate, Camptodactyly, Flexion con... OMIM:618011
Pelger-Huet Anomaly
Abnormality of the dentition, Umbilical hernia, Gingival overgrowth, Median cleft palate, Foot do... OMIM:169400
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:212140
Charge Syndrome
Interrupted aortic arch, Webbed neck, Delayed eruption of teeth, Cleft upper lip, Umbilical herni... ORPHA:138
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia, Splenomegaly, He... OMIM:252900
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Recurrent respiratory infections, Lymphedema, Pallor, Splenomegaly, ... ORPHA:3226
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Intestinal pseudo-obstruction, Delayed eruption of teeth, Congestive heart f... OMIM:309900
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hepatitis, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... ORPHA:848
Kawasaki Disease
Arrhythmia, Recurrent pharyngitis, Jaundice, Vasculitis, Glossitis, Cheilitis, Ascending tubular ... ORPHA:2331
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Houge-Janssens Syndrome 3
Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Short philtrum, Atrial sep... OMIM:618354
Cantú Syndrome
Long philtrum, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ca... ORPHA:1517
Autosomal Recessive Multiple Pterygium Syndrome
Webbed neck, Skeletal muscle atrophy, Long philtrum, Camptodactyly of finger, Umbilical hernia, I... ORPHA:2990
Methimazole Embryofetopathy
Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati... ORPHA:1923
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Abnormal... ORPHA:1667
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Ventricular septal defect, Thin upper lip vermilion, Atrial septal defect, Pulmonary... OMIM:618330
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Hepatitis, Umbilical hernia, Lymphedema, Ascites, Abnormal pleura mor... ORPHA:584
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... ORPHA:261183
Opitz Gbbb Syndrome
Aortic root aneurysm, Natal tooth, Ankyloglossia, Congenital diaphragmatic hernia, Ventricular se... ORPHA:2745
German Syndrome
Lymphedema, Tetralogy of Fallot, Camptodactyly of finger, Open mouth, Short neck, Orofacial cleft... ORPHA:2077
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Long philtrum, Anteriorly placed anus, Abnormal heart morphology, Oligohydra... OMIM:618494
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Intrauterine growth retardation, Wide mouth, Narrow mouth, Inguinal hernia, Dee... OMIM:615834
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Cleft upper lip, Tetralogy of Fallot, Mitral regurgitation,... OMIM:612561
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular sep... OMIM:615355
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Mitral regurgitation, High palate, Dilatation of the sinus of Valsalva... ORPHA:284984
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Tricuspid regurgitation, Intrauterine... OMIM:612863
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Generalized arterial tortuosity, Congenital diaphragmatic hernia, Hypoplasi... OMIM:614437
Lowry-Maclean Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Intrauterine growth retardation, Cleft pala... OMIM:600252
Distal Triplication 15Q
Abnormal heart morphology, Intrauterine growth retardation, Hypoplastic aortic arch, Hernia, Atri... ORPHA:314588
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Unilateral cleft lip, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth reta... OMIM:616897
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Ventricular septal defect ORPHA:3434
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ogden Syndrome
Everted upper lip vermilion, Facial wrinkling, Torsade de pointes, Thick upper lip vermilion, Ven... OMIM:300855
Esophageal Atresia
Pyloric stenosis, Barrett esophagus, Cleft lip, Bronchitis, Tetralogy of Fallot, Intestinal malro... ORPHA:1199
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Lymphedema, Pancreatic lymphangiectasis, Ascites, Sp... OMIM:235255
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Abnormality of the dentition, Double out... ORPHA:1596
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Achondrogenesis
Long philtrum, Umbilical hernia, Inguinal hernia, Short neck, Aplasia/Hypoplasia of the lungs, Po... ORPHA:932
Thomas Syndrome
Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... OMIM:614886
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Ventricular septal defect, Short neck, Atrial septal defect, Downturned... ORPHA:1507
Intellectual Developmental Disorder, X-Linked 112
Volvulus, Abnormal heart morphology, Right aortic arch, Bicuspid aortic valve, Pancreatic cysts OMIM:301111
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Charge Syndrome
Ventricular septal defect, Overriding aorta, Atrial septal defect, Anal atresia, Duodenal atresia... OMIM:214800
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Downturned corners of mouth, Absence of the... ORPHA:1600
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft of th... ORPHA:1770
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Umbilical hernia... OMIM:300989
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Intellectual Developmental Disorder, Autosomal Dominant 43
Umbilical hernia, Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip vermilion... OMIM:616977
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Webbed neck, Cleft lip, Contracture of the proximal interphalangeal j... OMIM:618223
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Cleft palate, Spina bifida, Anen... ORPHA:2476
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Striae distensae, Aortic arch aneurysm, Abdominal aortic a... OMIM:617168
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, C... OMIM:611867
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula... OMIM:620609
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Microdontia, Hypodon... OMIM:601499
Achondrogenesis, Type Ib
Umbilical hernia, Inguinal hernia, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum, Inguinal hernia, Umbilical hernia ORPHA:1373
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Coarctation of aorta, Atrial septal defect, Thin vermilion border, I... OMIM:615502
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... ORPHA:1335
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atrioventricular canal ... ORPHA:251071
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Inguinal hernia, Splenomegaly, Ventricular septal defect, Hepatom... OMIM:608149
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Umb... ORPHA:423461
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congest... ORPHA:33226
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Recurrent respiratory infections, Umbilical hernia, Hepatos... OMIM:607014
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Abnormal aortic morphology, Bilateral cleft palat... ORPHA:2001
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def... OMIM:619170
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th ... OMIM:618914
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cleft lip, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal... OMIM:618454
Macs Syndrome
Eclabion, Dilation of Virchow-Robin spaces, Long philtrum, Umbilical hernia, Recurrent aphthous s... OMIM:613075
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,... OMIM:616589
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Downturned corners of mouth, Cardiomyopathy, Umbilical hernia, Delayed erup... OMIM:135500
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Narrow palate, Congestive heart failure, Elbow flexion ... OMIM:608328
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Short neck, Atrial septal defect, Anal at... ORPHA:567
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Idiopathic Congenital Hypothyroidism
Facial edema, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ventricular septal de... OMIM:600987
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Th... OMIM:618846
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Thick lower lip vermilion, Increased nuchal t... ORPHA:1692
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia, Thick vermilion border, Lymphedema ORPHA:3137
Aarskog-Scott Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Camptod... ORPHA:915
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Anal atresia ORPHA:3469
Lymphedema-Distichiasis Syndrome
Cellulitis, Predominantly lower limb lymphedema, Webbed neck, Chylothorax, Cleft upper lip, Lymph... OMIM:153400
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Absent cupid's bow, Ventricular septal defect... ORPHA:284169
Silver-Russell Syndrome Due To 11P15 Microduplication
Intrauterine growth retardation, Oligohydramnios, Severe intrauterine growth retardation, Umbilic... ORPHA:231144
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic herni... ORPHA:1488
Achondrogenesis Type 1B
Long philtrum, Umbilical hernia, Short neck, Aplasia/Hypoplasia of the lungs, Polyhydramnios, Fem... ORPHA:93298
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis OMIM:215045
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Cardiomyopathy, Umbilical hernia, Abnormal heart va... OMIM:253220
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pul... OMIM:300887
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia... OMIM:600325
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circulating B cells,... OMIM:619705
Down Syndrome
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular ... OMIM:190685
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Delayed erupti... OMIM:609029
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... ORPHA:2847
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Lymphatic Malformation 6
Cellulitis, Prune belly, Facial edema, Generalized edema, Chylothorax, Webbed neck, Intestinal ly... OMIM:616843
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Splenom... OMIM:232300
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Umbilical herni... ORPHA:576
Achondrogenesis Type 1A
Long philtrum, Umbilical hernia, Short neck, Aplasia/Hypoplasia of the lungs, Polyhydramnios, Fem... ORPHA:93299
Li-Campeau Syndrome
Long philtrum, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Patent duct... OMIM:619189
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventr... OMIM:609053
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Periodontitis, Premature loss of teeth, Umbilical hernia, Gingival recession, ... OMIM:130080
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia OMIM:254120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Median pseudocleft lip, Wide mo... OMIM:619758
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Polysplenia, Cleft upper lip, Coronary artery fistula, Intrauterine growth retardati... OMIM:614294
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Prune Belly Syndrome
Volvulus, Recurrent respiratory infections, Tetralogy of Fallot, Intestinal malrotation, Oligohyd... ORPHA:2970
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Idiopathic Hypereosinophilic Syndrome
Angioedema, Hepatosplenomegaly, Myocardial eosinophilic infiltration, Portal fibrosis, Pallor, Pl... ORPHA:3260
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Umbilical hernia, Open bite, Abnormal dental morphology, Abnormal cardiac se... ORPHA:3079
Noonan Syndrome 10
Webbed neck, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral... OMIM:616564
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis OMIM:616559
Roifman Syndrome
Recurrent pneumonia, Downturned corners of mouth, Long philtrum, Intrauterine growth retardation,... OMIM:616651
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Anterior open-bite malocclusion, Thin upper lip vermilion, Perime... OMIM:617877
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Long philtrum, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ol... OMIM:614052
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Inguinal hernia, Peripheral art... ORPHA:217085
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Cleft lip, Intrauterine growth retardation, Bilateral l... OMIM:611812
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, Abnormal mitra... ORPHA:1292
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Open bite, Dry skin, Narrow mouth, Ventricular septal defec... ORPHA:955
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Ventricular septal defect, Atrial septal defect, Thick vermilion bor... OMIM:618974
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Decreased liver function, Ascites, Cholestasis, Intrau... OMIM:608104
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Skeletal muscle atrophy, Umbilical hernia, Tricuspid regurgitation, Atrophic scar... OMIM:614557
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Duodenal at... ORPHA:141127
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Ve... OMIM:600649
Down Syndrome
Narrow palate, Abnormality of the dentition, Secundum atrial septal defect, Downturned corners of... ORPHA:870
Seckel Syndrome 9
Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ve... OMIM:616777
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Myopathy, Jaundice, Macroglossia, Skeletal muscle hypertrophy ORPHA:2349
Opitz Gbbb Syndrome
Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula, Inguinal hernia, ... OMIM:300000
Fontaine Progeroid Syndrome
Narrow mouth, Reduced subcutaneous adipose tissue, Protruding tongue, Neonatal death, Bicuspid ao... OMIM:612289
Chromosome 5Q12 Deletion Syndrome
Hypotension, Long philtrum, Increased nuchal translucency, Patent foramen ovale, Ventricular sept... OMIM:615668
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Contractures of the large joints, Cardiomyopathy, U... ORPHA:580
Ogden Syndrome
High, narrow palate, Cardiogenic shock, Everted upper lip vermilion, Inguinal hernia, Ventricular... ORPHA:276432
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Umbilical hernia, Atrioventricular canal defect, Intr... ORPHA:1620
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Portal hyp... ORPHA:974
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han... ORPHA:536516
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, High palate, Inguinal hernia, Ventricular septal defect OMIM:314320
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Short philtrum, Cleft palate ORPHA:94066
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Inguinal hernia, Peripheral art... ORPHA:217093
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Smooth philtrum, Shor... OMIM:613544
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Umbilical hernia, Abnormal heart morphology, Thick low... ORPHA:261652
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Intrauterine growth retardation, Ventricular septal defect, A... OMIM:615102
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... OMIM:314390
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Umbilical hernia, Inguinal hernia, Ventricular septal defec... ORPHA:2789
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Inguinal hernia, Ventricular septal defect ORPHA:3369
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Congenital diaphragmatic hernia, Ventricular septal def... ORPHA:96170
Alg9-Cdg
Hypoplasia of the musculature, Ventricular septal defect, Short neck, Atrial septal defect, Torti... ORPHA:79328
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Cho... OMIM:614576
Robinow Syndrome
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Ventricular septal... ORPHA:97360
Gjc2-Related Late-Onset Primary Lymphedema
Cellulitis, Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic ... ORPHA:568051
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphr... ORPHA:1120
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Mitral regurgitation, Ventricular septal defect, Atrial septal ... OMIM:301039
Acrocallosal Syndrome
Everted upper lip vermilion, Narrow mouth, Open mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal... OMIM:617602
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ... OMIM:301043
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Proteus Syndrome
Cerebriform connective tissue nevus, Venous malformation, Open mouth, Splenomegaly, Multiple lipo... OMIM:176920
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt... OMIM:619051
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anterior... OMIM:616894
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction, Left v... OMIM:300967
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... OMIM:618775
Dominant Beta-Thalassemia
Abnormality of the dentition, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatic fibr... ORPHA:231226
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistula, Complete a... OMIM:619343
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Widely spaced teeth, Absent cupid's bow, Right aortic arch, Ventricu... ORPHA:513456
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Dry skin, Omphalocele, Umbilical hernia OMIM:275100
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Hypertrophic cardiomyopathy, Median cleft palate, Inguinal her... ORPHA:3342
Opitz-Kaveggia Syndrome
Narrow palate, Joint contracture of the hand, Anal stenosis, Dental crowding, Long philtrum, Faci... OMIM:305450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Tetralogy of Fallot, Atrioven... ORPHA:7
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension, Elevated circulating hepatic transam... OMIM:619064
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Open mouth, Myopathy, Ventricular septal defect OMIM:616816
Glycosylphosphatidylinositol Biosynthesis Defect 11
Umbilical hernia, Tented upper lip vermilion, Inguinal hernia, Macroglossia, High palate OMIM:616025
Distal Deletion 19P
Keloids, Umbilical hernia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... ORPHA:96129
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Patent ductus arteriosus, Long philtrum, Umbilical hernia ORPHA:171839
Immunodeficiency 49
Natal tooth, Umbilical hernia, Psoriasiform dermatitis, Pulmonary artery stenosis, Eosinophilia, ... OMIM:617237
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intrauterine growth reta... OMIM:617713
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Pulmonary hypoplasi... OMIM:620025
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Cholestasis, Dry skin, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Reduced sub... OMIM:619503
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Smooth philtrum, Ventricular septal defect OMIM:620393
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... OMIM:300166
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet... ORPHA:210122