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Gene: Nprl3 MGI:109258

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... OMIM:232500
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the dentition, Abnormality of the philtrum ORPHA:276422
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Diamond-Blackfan Anemia 1
Webbed neck, Cleft upper lip, Congestive heart failure, Intrauterine growth retardation, Pallor, ... OMIM:105650
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Atelis Syndrome 1
Carious teeth, Long philtrum, Dry skin, Ventricular septal defect, Atrial septal defect, High pal... OMIM:620184
Suleiman-El-Hattab Syndrome
Webbed neck, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Inguinal hern... OMIM:618950
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve... OMIM:618506
Mucolipidosis Ii Alpha/Beta
Myelopathy, Progressive alveolar ridge hypertropy, Mitral regurgitation, Recurrent bronchitis, He... OMIM:252500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short neck, Pulmonary arterial hypertension, Deep philtrum, Vascular dilatation, Hy... OMIM:613320
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Advanced eruptio... ORPHA:1519
Verheij Syndrome
Branchial cyst, Long philtrum, Intrauterine growth retardation, Truncus arteriosus, Ventricular s... OMIM:615583
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome... ORPHA:1655
Gaucher Disease, Perinatal Lethal
Hepatic failure, Arthrogryposis multiplex congenita, Everted upper lip vermilion, Ascites, Hepato... OMIM:608013
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormal lung lobation, Intraut... ORPHA:3378
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, ... OMIM:300963
Halperin-Birk Syndrome
Umbilical hernia, Intrauterine growth retardation, Thick vermilion border, Congenital diaphragmat... OMIM:618651
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Sit... ORPHA:199302
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hernia, Short philtrum, High palate ORPHA:3306
Diamond-Blackfan Anemia
Webbed neck, Cleft lip, Abnormality of the thenar eminence, Abnormal heart morphology, Cleft soft... ORPHA:124
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Tetrasomy 9P
Absent gallbladder, Abnormal mitral valve morphology, Short neck, Dextrocardia, Jaundice, High pa... ORPHA:3310
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... OMIM:620113
Serkal Syndrome
Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal ... ORPHA:139466
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Umbilical hernia, Polyhydramnios, Thin upper lip vermilion, Ventricular arrhythmia, High palate, ... OMIM:620475
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep... OMIM:249270
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Dental malocclusion, Gingival overgrowth, Mitral valve prolapse, V... OMIM:249420
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Dry ... ORPHA:565
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, High palate, Hy... OMIM:618142
Vascular Ehlers-Danlos Syndrome
Carious teeth, Periodontitis, Narrow mouth, Mitral valve prolapse, Excessive wrinkled skin, Abnor... ORPHA:286
Familial Multiple Nevi Flammei
Arteriovenous malformation, Skin ulcer, Pulmonary embolism, Venous insufficiency, Arrhythmia, Int... ORPHA:624
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Ventricular septal defect, Bilateral clef... OMIM:601357
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr... OMIM:607598
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Abnormal lung lobation, Intestinal malrotation, Narrow mouth, Encephalocele, Or... ORPHA:2166
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Petechiae, Abnormal mitr... ORPHA:903
Oculofaciocardiodental Syndrome
Tooth malposition, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Delayed er... ORPHA:2712
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Ventricular septal defect, Intrahepatic... OMIM:614815
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Umbilical hernia... OMIM:607015
Meige Disease
Cellulitis, Predominantly lower limb lymphedema, Atypical scarring of skin, Facial edema, Skin ul... ORPHA:90186
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina... OMIM:243150
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarcta... OMIM:600460
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Downturned corners of mouth, Tetralogy of Fallot, Co... ORPHA:96147
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Narrow mouth, Inguinal hernia, Ventricular septal defect, Atrial se... OMIM:608572
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Ventricular septal defect, Short neck, Ectopic anus... ORPHA:2345
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Bilateral cleft lip, Hypoplast... OMIM:618021
Luo-Schoch-Yamamoto Syndrome
Umbilical hernia, Tricuspid regurgitation, Intrauterine growth retardation, Oligohydramnios, Narr... OMIM:619460
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Natal tooth, Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios,... ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
X-Linked Ehlers-Danlos Syndrome
Hernia, Thin skin, Inguinal hernia, Umbilical hernia ORPHA:75497
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Widely spaced teeth, Gingival overgrowth, Inguinal hernia, Multiple joint contr... OMIM:618143
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Filippi Syndrome
Serrated incisors, Intrauterine growth retardation, Abnormal dental morphology, Ventricular septa... OMIM:272440
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Long philtrum, Congestive heart failu... OMIM:123700
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Natal tooth, Long philtrum, Dental crowding, Ventricular septal defect, Thi... OMIM:145420
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal de... OMIM:615279
Mucopolysaccharidosis, Type Vi
Pneumonia, Macroglossia, Recurrent upper respiratory tract infections, Cervical myelopathy, Cario... OMIM:253200
Von Hippel-Lindau Disease
Macular edema, Upper limb muscle weakness, Cardiomyopathy, Palpitations, Pallor, Neoplasm of the ... ORPHA:892
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatosplenomegaly, Large placenta, Narrow mouth, Ventricular septal defect, Short neck, Hepatobl... ORPHA:96334
Fanconi Anemia
Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, A... ORPHA:84
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Beta-Thalassemia Major
Abnormality of the dentition, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatic fibr... ORPHA:231214
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Ventricular septal defect, Short neck, Omphalocele, Short philtrum ORPHA:93267
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mosaic Trisomy 9
Endocardial fibroelastosis, Ventricular septal defect, Short neck, Atrial septal defect, Dextroca... ORPHA:99776
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Triploidy
Intestinal malrotation, Intrauterine growth retardation, Abnormality of the gallbladder, Narrow m... ORPHA:3376
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalize... ORPHA:33276
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Pulmonary artery steno... ORPHA:75389
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Abnormal palate morphology ORPHA:1381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Short neck, Hepatoblastoma, Atrial se... ORPHA:373
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Skeletal muscle atrophy, Subdural hemorrhage, Umbilical hernia, Arteri... ORPHA:536545
Thoracoabdominal Syndrome
Cleft upper lip, Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arte... OMIM:313850
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Tetralogy ... OMIM:136760
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Congestive he... ORPHA:90349
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Short-Rib Thoracic Dysplasia 12
Natal tooth, Ventricular septal defect, Neonatal death, Short neck, Hepatomegaly, Patent ductus a... OMIM:269860
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Hi... OMIM:121050
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Wide mouth, Downturned corners of mouth, Umbilical hernia OMIM:273390
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, Everted lower lip vermilion, Atrial septa... ORPHA:228399
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri... OMIM:252920
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Long neck, Umbilical hernia, Inguinal hernia... OMIM:611962
Leopard Syndrome 3
Webbed neck, Tetralogy of Fallot, Dry skin, Abnormal aortic valve morphology, Abnormal mitral val... OMIM:613707
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Patent foramen ovale, Short neck, Transposition of the great arteries, Everted lower ... OMIM:616789
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Long philtrum, Narrow mouth, Inguinal hernia, Ventricular sep... OMIM:158170
Syndromic Diarrhea
Dry skin, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial sep... ORPHA:84064
Peters Plus Syndrome
Short neck, Anal atresia, Patent ductus arteriosus, Hypoplastic left heart, Inguinal hernia, Abno... ORPHA:709
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Joint contracture of the hand, Dental malocclusion, Umbilical hernia, Inguinal her... OMIM:182212
Noonan Syndrome 2
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa... OMIM:605275
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Rubinstein-Taybi Syndrome 1
Narrow mouth, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, High palate... OMIM:180849
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
2Q37 Microdeletion Syndrome
Downturned corners of mouth, Umbilical hernia, Abnormal aortic morphology, Congenital diaphragmat... ORPHA:1001
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Rectal prolapse, Dilatation of... ORPHA:287
Imagawa-Matsumoto Syndrome
Camptodactyly, Anteriorly placed anus, Umbilical hernia OMIM:618786
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Skeletal muscle atrophy, Quadriceps muscle weakness, Shoulder flex... OMIM:255800
Oculoauriculofrontonasal Syndrome
Cleft lip, Narrow mouth, Encephalocele, Pericallosal lipoma, Ventricular septal defect, Broad phi... ORPHA:398156
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Hernia of the abdominal wall, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:2184
Acrocardiofacial Syndrome
Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, M... ORPHA:2008
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Complete atrioventricular canal defect, Coarctation of aorta, Orofacial clef... OMIM:217085
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Inguinal hern... ORPHA:254528
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal def... OMIM:222448
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Abnormality of the dentition, Long philtrum, Inguinal hernia, Ventricular septal defect, Smooth p... ORPHA:261190
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Median cl... ORPHA:40366
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Webbed neck, Muscle fiber atrophy,... OMIM:619542
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
3P25.3 Microdeletion Syndrome
High, narrow palate, Skeletal muscle atrophy, Downturned corners of mouth, Knee flexion contractu... ORPHA:435638
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, High palate, Wid... OMIM:613398
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Deh... ORPHA:20
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Narrow mouth, Congenital diaphragmatic he... ORPHA:261344
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Ascites, Pallor, Reduced subcutaneous adipose tissue, ... OMIM:606812
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growt... OMIM:612562
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Inguinal hern... OMIM:219150
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, E... OMIM:608836
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
You-Hoover-Fong Syndrome
Vascular ring, Coarctation of aorta, Double aortic arch, Cleft palate, Accessory oral frenulum OMIM:616954
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... OMIM:231005
Ververi-Brady Syndrome
Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Transposition of the ... OMIM:617982
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Webbed neck, Aortic root aneurysm, Long philtrum, Elbow flexion contracture, Narrow mouth, Congen... OMIM:245600
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Gm1 Gangliosidosis
Long philtrum, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly... ORPHA:354
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Cleft upper lip, Abnormality of the pulmonary v... ORPHA:33001
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Ventricular septal defect, Bicuspid aortic val... ORPHA:353281
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Thakker-Donnai Syndrome
Webbed neck, Downturned corners of mouth, Tetralogy of Fallot, Intrauterine growth retardation, N... ORPHA:1780
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Polyhydramnios, ... OMIM:312150
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia, Abnormal... ORPHA:1203
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Diprosopus
Cleft palate, Anencephaly, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology ORPHA:1681
Waardenburg Syndrome Type 2
Aganglionic megacolon, Abnormality of the pulmonary artery ORPHA:895
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Ventricular septal defect, Short neck, High palate, Cleft palate OMIM:609654
Costello Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Abnormal de... ORPHA:3071
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septal defect, Arr... OMIM:312870
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Mitral valve prolapse, Arrhythmia, Tendon rupture, Rectal prolapse, High, n... ORPHA:285
Alagille Syndrome 2
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis... OMIM:610205
Holoprosencephaly 14
Cleft lip, Ventricular septal defect, Median cleft upper lip, Double outlet right ventricle, Aort... OMIM:619895
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Cholestasis, Hepatosplenomegaly, Oral ulcer, Elevated circulating alanine aminotransfer... OMIM:620376
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Elevated circulating alanine aminotransferase concentration, Hepatome... ORPHA:365
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Atypical scarring of skin, Dental crowding, Aortic dissection, Gingival recession, Atrophic scars... OMIM:618343
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Skin ulcer, Venous insufficiency, Purp... ORPHA:743
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Nonimmune hydrops fetalis OMIM:618838
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Exaggerated cupid's bow, Ventricular septal defect, Bi... OMIM:618619
Scarf Syndrome
Webbed neck, Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia, Short neck, Cutis... ORPHA:3134
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Leishmaniasis
Abnormal oral mucosa morphology, Elevated circulating hepatic transaminase concentration, Skin ul... ORPHA:507
Loeys-Dietz Syndrome 5
Bifid uvula, Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, Tented upper lip ver... OMIM:615582
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Diastasis recti, Open mouth, Tented upper lip vermilion, Thin upper lip vermili... OMIM:616579
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Mitral regurgitation, Myopathy, Oral ulcer, Hepatomegaly, Recurrent lower res... OMIM:612541
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Neoplasm of the oral cavity, Generalized lipod... ORPHA:79474
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect, Wide m... OMIM:617635
Beck-Fahrner Syndrome
Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Facial hypotonia, High palate OMIM:618798
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Open ... OMIM:220500
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Purpura, Thin skin ORPHA:745
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Patent ductus arteriosus, Mitral valve prolapse, Umbilical hernia OMIM:104350
Orofaciodigital Syndrome V
Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Ventricular septal defect, ... OMIM:174300
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Lower limb hypertonia, High palate, Ventricular septal... OMIM:619995
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Diastasis recti, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR interval, Ca... ORPHA:308552
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Dysplastic aortic valve, Cleft maxillary a... ORPHA:508488
Marshall-Smith Syndrome
Aspiration pneumonia, Irregular dentition, Ventricular septal defect, Premature ventricular contr... OMIM:602535
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Abnormal pulmonary valve morphology, ... ORPHA:667
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Carious teeth, Delayed eruption of teeth... ORPHA:2834
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Hypertension, Cerebral hemorrhage OMIM:618886
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Vent... OMIM:264480
Coffin-Siris Syndrome 7
Downturned corners of mouth, Thick lower lip vermilion, Oligohydramnios, Patent foramen ovale, Ve... OMIM:618027
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... OMIM:614300
Carpenter Syndrome
Patent ductus arteriosus, Polysplenia, Umbilical hernia ORPHA:65759
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios OMIM:263630
Familial Thyroid Dyshormonogenesis
Facial edema, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:95716
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Spontaneous neonatal pneumothorax, Umbilical hernia, Atrophic scars, Blepharoc... OMIM:225410
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Mucopolysaccharidosis Type 3
Abnormality of the dentition, Atrioventricular block, Aspiration pneumonia, Umbilical hernia, Red... ORPHA:581
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Omphalocele, Polyhyd... ORPHA:2241
Galloway-Mowat Syndrome 7
Cleft lip, Dilated cardiomyopathy, Ventricular septal defect, Smooth philtrum, High palate, Cleft... OMIM:618348
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Atrial septal defect, Ventricular septal defect ORPHA:357225
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, ... OMIM:614609
Orofaciodigital Syndrome Xvii
Tetralogy of Fallot, Short neck, Median cleft upper lip, High, narrow palate OMIM:617926
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Abnormality of the abdominal organs, Downturned corners of mouth... ORPHA:2409
Kapur-Toriello Syndrome
Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Short neck, Orofacial cle... ORPHA:2328
Gapo Syndrome
Abnormal cerebral vascular morphology, Delayed eruption of teeth, Umbilical hernia, Atheroscleros... ORPHA:2067
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Long philtrum, Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Vent... OMIM:618870
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Cleft upper lip, Umbilical hernia, Abnormal cardiac septum morphology, Sing... OMIM:308050
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Char Syndrome
Agenesis of permanent teeth, Persistence of primary teeth, Ventricular septal defect, Triangular ... ORPHA:46627
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... OMIM:300998
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Mogs-Cdg
Generalized edema, Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertroph... ORPHA:79330
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Sandhoff Disease
Skeletal muscle atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Orthost... OMIM:268800
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Cleft lip, Tricuspid regurgitation, Left ventricula... OMIM:620519
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Pursed lips, Umbilical hernia, Elbow flexion contracture, Long philtrum, ... OMIM:616266
Milroy Disease
Cellulitis, Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose... ORPHA:79452
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Okur-Chung Neurodevelopmental Syndrome
Umbilical hernia, Abnormal heart morphology, Protruding tongue, Inguinal hernia, Thin upper lip v... OMIM:617062
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Smooth philtrum, Ventricular septal defect OMIM:602501
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Intrauterine growth retar... ORPHA:1708
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Inguinal hernia, Enlarged kidney, Umbilical hernia OMIM:618272
Periventricular Nodular Heterotopia 7
Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contr... OMIM:617201
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Degcags Syndrome
Cholestasis, Hepatosplenomegaly, Protruding tongue, Ventricular septal defect, Abnormal spleen mo... OMIM:619488
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Eosinophilia, Pallor ORPHA:517
Braddock-Carey Syndrome 1
Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Enamel hypoplasia, Ever... OMIM:619980
Hajdu-Cheney Syndrome
Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Ingui... OMIM:102500
Fanconi Anemia, Complementation Group B
Duodenal atresia, Abnormal lung lobation, Intrauterine growth retardation, Ventricular septal def... OMIM:300514
Progeroid Syndrome, Petty Type
Umbilical hernia, Tooth agenesis, Intrauterine growth retardation, Redundant skin, Reduced subcut... ORPHA:2963
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Long philtrum, Umbilical hernia, Congestive heart failure, Inguinal hernia, Cleft palate ORPHA:2505
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Ventricular septal defect, Bicuspid aortic val... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Ventricular septal defect, Bicuspid aortic val... ORPHA:353277
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Neonatal death, Ventricular septal defect OMIM:613730
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Umbilical hernia, Abnormal dental enamel morphology, Campto... ORPHA:2710
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Everted lower lip vermilion, Cerebral edema, High palate, Tricuspi... OMIM:620371
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Umbilical hernia, Thick lower lip vermilion, Protruding tongue, Ventricular septal defe... OMIM:301040
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Stroke-like episode, Orthostatic hypotension due to autonomic dysfunction, Pulmon... OMIM:105210
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, High, narrow palate, Branchial fistula, Camptodactyly of finger, Ankyloglos... ORPHA:261330
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med... ORPHA:2919
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Abnormal heart morphology, Atrioventricular canal defec... ORPHA:453499
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Dental crowding, Open mouth, Ventricular septal defect, Thin upper lip vermilion, Short philtrum,... OMIM:309520
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Narrow mouth, Mitral regurgitation, Mitral valve prolapse, Atrial septal defect, High palate, Aor... OMIM:601776
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Umbilical hernia, Exaggerated cupid's bow, Bicuspid aortic valve, Macroglo... OMIM:614501
Kapur-Toriello Syndrome
Joint contracture of the hand, Cleft upper lip, Camptodactyly of finger, Intestinal malrotation, ... OMIM:244300
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Polyhydramnios, Flexion contractu... OMIM:253290
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Inguinal hernia, Ventricular septal defect, Heart murmur, Abnorm... ORPHA:166035
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Dry skin, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:226313
Thyroid Dyshormonogenesis 1
Macroglossia, Dry skin, Umbilical hernia OMIM:274400
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the musculature, Long philtrum, Camptodactyly of finger, Tricu... ORPHA:1101
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Alagille Syndrome
Peripheral pulmonary artery stenosis, Cholestasis, Intrauterine growth retardation, Reduced numbe... ORPHA:52
Beckwith-Wiedemann Syndrome
Large placenta, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Abn... ORPHA:116
Nicolaides-Baraitser Syndrome
High, narrow palate, Periorbital wrinkles, Premature skin wrinkling, Umbilical hernia, Long philt... OMIM:601358
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Limb h... OMIM:619909
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Carious teeth, Delayed eruption of teeth, Long philtrum, Umbilical... OMIM:278250
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Nonimmune h... OMIM:266200
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Hepatic fibrosis, Hepatic failure, Long philtrum, Tetralogy of... OMIM:222470
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Ventricular septal defect, Pate... OMIM:613680
Carpenter Syndrome 2
High, narrow palate, Webbed neck, Narrow palate, Carious teeth, Dental malocclusion, Long philtru... OMIM:614976
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Orofacia... OMIM:615630
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Coarctation ... OMIM:617159
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Stroke, Hepatomegaly, Jaundice, H... OMIM:603903
Omodysplasia 1
Long philtrum, Umbilical hernia, Ventricular septal defect, Pulmonary artery stenosis, Short neck... OMIM:258315
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin... ORPHA:26793
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Intrauterine growth retardation, Ventricular septal defect ORPHA:2772
Kleefstra Syndrome
Downturned corners of mouth, Delayed eruption of teeth, Tetralogy of Fallot, Tented upper lip ver... ORPHA:261494
Smith-Kingsmore Syndrome
Long philtrum, Umbilical hernia, Diastasis recti, Open mouth, Thin upper lip vermilion, Smooth ph... OMIM:616638
Trichothiodystrophy
High, narrow palate, Carious teeth, Cardiomyopathy, Umbilical hernia, Dry skin, Intrauterine grow... ORPHA:33364
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Koolen-De Vries Syndrome
Narrow palate, Aortic root aneurysm, Cleft upper lip, Widely spaced teeth, Dry skin, Intrauterine... OMIM:610443
Desbuquois Syndrome
Short neck, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventri... ORPHA:1425
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Fucosidosis
Recurrent respiratory infections, Cherry red spot of the macula, Thick lower lip vermilion, Dry s... OMIM:230000
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine grow... OMIM:311900
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... ORPHA:284227
Multiple Pterygium Syndrome, Escobar Variant
Narrow mouth, Congenital diaphragmatic hernia, Short neck, High palate, Downturned corners of mou... OMIM:265000
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Long philtrum, Intrauterine growth retardation, Mitral regurgitation, Hepat... ORPHA:254346
C Syndrome
Thick anterior alveolar ridges, Ventricular septal defect, Cutis laxa, Omphalocele, Hepatomegaly,... OMIM:211750
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Dry skin, Umbilical hernia ORPHA:95715
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Nephrotic Syndrome, Type 11
Cleft lip, Dilated cardiomyopathy, Ventricular septal defect, Smooth philtrum, High palate, Cleft... OMIM:616730
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Short neck, Hepatomegaly, High pala... OMIM:266920
Jansen-De Vries Syndrome
Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Wide mouth, Central d... OMIM:617450
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, High palate, Patent ductus arteriosus, Cleft palate ORPHA:52055
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Lymphadenop... ORPHA:824
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Downturned corners of mouth, Thick upper lip vermilion, Intrauterine growth retardation, Polyhydr... OMIM:617360
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormal... ORPHA:2131
Schneckenbecken Dysplasia
Umbilical hernia, Nonimmune hydrops fetalis, Short neck, Stillbirth, Polyhydramnios, Cleft palate OMIM:269250
Optic Atrophy 1
Pallor OMIM:165500
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... OMIM:608594
Acquired Idiopathic Sideroblastic Anemia
Bone marrow hypocellularity, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly ORPHA:75564
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Intrauterine growth retardation, Narrow mouth, Vent... OMIM:614114
Fucosidosis
Abnormality of the dentition, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly... ORPHA:349
Shprintzen-Goldberg Syndrome
High, narrow palate, Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Abnormal aortic ... ORPHA:2462
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts OMIM:616307
Floating-Harbor Syndrome
Carious teeth, Downturned corners of mouth, Umbilical hernia, Mesocardia, Inguinal hernia, Microd... OMIM:136140
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Splenic cyst, Inguinal hernia, Stroke, Polyhydramnios, Patent ductus arteriosus... OMIM:618188
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, High, narrow palate, Umbilical hernia ORPHA:2181
Mycophenolate Mofetil Embryopathy
Tessier cleft, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of aorta, ... ORPHA:268249
Marfan Syndrome
Aortic root aneurysm, Open bite, Mitral regurgitation, Mitral valve prolapse, Meningocele, Aortic... ORPHA:558
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Holt-Oram Syndrome
Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Si... OMIM:142900
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Recurrent pneumonia, Cholelithiasis, Furrowed tongue, Contracture of the pro... ORPHA:464738
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
X Small Rings
Aortic root aneurysm, Long philtrum, Oligohydramnios, Mitral stenosis, Ventricular septal defect,... ORPHA:96201
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Patent ductus arteriosus, Ventricular s... ORPHA:452
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Oligodontia,... OMIM:617061
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Umbilical hernia, Intrauterine growth retardation, Gingival overgrowth, Prot... ORPHA:99843
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Aase-Smith Syndrome I
Flexion contracture, Open mouth, Cleft palate, Ventricular septal defect OMIM:147800
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Robinow Syndrome, Autosomal Recessive 1
Short neck, Right ventricular outlet tract obstruction, Downturned corners of mouth, Abnormal hea... OMIM:268310
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hern... OMIM:616331
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Hepatic steatosis, Premature arteriosclerosis, Calcif... ORPHA:391665
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
Woods Syndrome
Thin vermilion border, Ventricular septal defect OMIM:615236
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Generalized edema, Edema, Pleuritis, Pallor, Respiratory tract in... ORPHA:544482
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Intestinal ma... ORPHA:404440
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Occipital encephalocele, Cleft upper lip, Tetralogy of Fallot, ... OMIM:164210
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Umbilical hernia, Retinal arteriolar tortuo... OMIM:230740
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Pancreatic c... ORPHA:51608
Osteogenesis Imperfecta
Carious teeth, Aortic root aneurysm, Mitral valve prolapse, Intestinal obstruction, Abnormality o... ORPHA:666
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Pallor, Splenomegaly OMIM:615631
Sepsis In Premature Infants
Hypotension, Decreased liver function, Pallor, Splenomegaly, Petechiae, Jaundice, Enterocolitis, ... ORPHA:90051
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Webbed neck, Umbilical hernia, Elbow flexion contracture, Oligohydramnios, K... OMIM:613776
Insulin-Like Growth Factor I, Resistance To
Webbed neck, Long philtrum, Intrauterine growth retardation, Narrow mouth, Reduced subcutaneous a... OMIM:270450
Toriello-Carey Syndrome
Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Intrauterine growth retardation, Abn... ORPHA:3338
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Thin upper lip vermili... OMIM:617452
Trisomy 20P
Abnormality of the dentition, Downturned corners of mouth, Umbilical hernia, Camptodactyly of fin... ORPHA:261318
Joubert Syndrome 14
Open mouth, Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Short philtrum,... OMIM:614424
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Furrowed tongue, Tented upper lip vermilion, Inguinal hernia, Ventricular se... OMIM:616449
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Foot joint contracture, Dental malocclusion, ... ORPHA:444072
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Ventricular septal defect, Short neck, High palate, Recurrent a... OMIM:300472
Spondylo-Ocular Syndrome
Webbed neck, Long philtrum, Ventricular septal defect, Short neck, Facial hypotonia, Thin vermili... ORPHA:85194
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Congenital diaphragmatic hernia... OMIM:612530
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate OMIM:243440
Doors Syndrome
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Narrow palate, ... ORPHA:79500
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Ca... OMIM:619123
Lambotte Syndrome
Intrauterine growth retardation, Narrow mouth, Ventricular septal defect OMIM:245552
Arthrogryposis Multiplex Congenita 5
Long philtrum, Premature skin wrinkling, Elbow flexion contracture, Umbilical hernia, Intrauterin... OMIM:618947
Intellectual Developmental Disorder, Autosomal Recessive 71
Prune belly, Increased overbite, Ventricular septal defect OMIM:618504
19Q13.11 Microdeletion Syndrome
Dry skin, Intrauterine growth retardation, Ventricular septal defect, Solitary median maxillary c... ORPHA:217346
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, High palate, Du... OMIM:135900
Evans Syndrome
Epistaxis, Pallor, Petechiae, Syncope, Jaundice ORPHA:1959
Williams-Beuren Syndrome
Open mouth, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aort... OMIM:194050
Weaver Syndrome
Joint contracture of the hand, Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia,... OMIM:277590
Noonan Syndrome 4
Webbed neck, Dental malocclusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Short n... OMIM:610733
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Tooth agenesis, Palm... OMIM:605676
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Cardiospondylocarpofacial Syndrome
Long philtrum, Muscular ventricular septal defect, Congenital diaphragmatic hernia, Mitral regurg... OMIM:157800
Thymic Carcinoma
Palpebral edema, Abnormal vena cava morphology, Mediastinal lymphadenopathy, Edema ORPHA:99868
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum, Atrioventricular ca... OMIM:620568
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Downturned corners of mouth, Intestinal malrotation, Ventricular septal defect, Thin upper lip ve... ORPHA:457193
Kury-Isidor Syndrome
Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal defect, Triang... OMIM:619762
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Thin upper li... OMIM:613884
Parkes Weber Syndrome
Arteriovenous malformation, Skin ulcer, Lower limb muscle weakness, Vascular tortuosity, Myelopat... ORPHA:90307
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Narrow mouth, Ventricular septal defect, Pulmonary arterial hype... ORPHA:447980
Mesomelia-Synostoses Syndrome
High, narrow palate, Long philtrum, Aplasia/Hypoplasia of the uvula, Umbilical hernia, Narrow mou... ORPHA:2496
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Bohring-Opitz Syndrome
Narrow palate, Cleft upper lip, Intestinal malrotation, Intrauterine growth retardation, Polyhydr... OMIM:605039
Cranioectodermal Dysplasia 2
Cholestasis, Short neck, Atrial septal defect, Everted lower lip vermilion, Hepatomegaly, High pa... OMIM:613610
Kniest Dysplasia
Umbilical hernia, Inguinal hernia, Hip contracture, Short neck, Cleft palate OMIM:156550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Scapular winging, High palate OMIM:600462
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Increased hepatic glycogen conten... OMIM:619259
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Abnormal lung lobation, Anteriorly placed anus, Intra... OMIM:146510
Vacterl/Vater Association
Occipital encephalocele, Intrauterine growth retardation, Abnormality of the gallbladder, Congeni... ORPHA:887
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ventricular hypertro... OMIM:614261
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Reduced number of intrahepatic bile d... ORPHA:79284
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Thin upper lip vermili... ORPHA:505237
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Inguinal hernia, Wrist flexion contrac... ORPHA:436003
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Arteria lusoria, Umbilical hernia, Psoriasiform dermatitis, Thin lower lip vermilion, B lymphocyt... ORPHA:221139
Scarf Syndrome
Webbed neck, Long philtrum, Umbilical hernia, Diastasis recti, Inguinal hernia, Short neck, Cutis... OMIM:312830
Noonan Syndrome
Webbed neck, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormality of the spleen, Lymphedema, Th... ORPHA:648
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Atrial septal defect, Polyhydramnios... ORPHA:1790
Peters-Plus Syndrome
Short lingual frenulum, Ventricular septal defect, Short neck, Atrial septal defect, Patent ductu... OMIM:261540
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Cardiac fibroma, Short ... ORPHA:77301
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Tented upper lip vermilion, Splenomegaly... OMIM:615673
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Long philtrum, Omphalocele, Ventricular septal defect OMIM:617895
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal de... ORPHA:2519
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Umbilical hernia ORPHA:2196
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Ventricular septal defect, Atrial septal defect, Anal... OMIM:300373
Chime Syndrome
Erythema, Abnormality of the dentition, Skin ulcer, Tetralogy of Fallot, Abnormal dental morpholo... ORPHA:3474
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Webbed neck, Annular ... ORPHA:2308
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Patent ductus arteriosus, Umbilical hernia ORPHA:2095
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Small hypothenar eminence, Contractures of the large joints, Long philtrum, ... ORPHA:96092
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Long philtrum, Dry skin, Patent foramen ovale, Ventricular septal def... OMIM:619268
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Mitral valve prolapse, Pulmonary bulla, Pulmonary bleb, Diffuse alveolar hemorrhag... OMIM:130050
Agel Amyloidosis
Xerostomia, Cardiomyopathy, Dry skin, Blepharochalasis, Respiratory tract infection, Orthostatic ... ORPHA:85448
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Subvalvular... OMIM:613001
Joint Laxity, Short Stature, And Myopia
Inguinal hernia, Umbilical hernia OMIM:617662
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Long philtrum, Umbilical hernia, Cholestasis, Pancreatic hypoplasia,... OMIM:610199
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Tetralogy of Fallot, Encephalocel... OMIM:100300
Congenital Myopathy 12
High, narrow palate, Joint contracture of the hand, Polyhydramnios, Pulmonary artery stenosis, Hi... OMIM:612540
Noonan Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Paten... OMIM:609942
Genitopalatocardiac Syndrome
Downturned corners of mouth, Abnormal mesentery morphology, Intrauterine growth retardation, Abno... ORPHA:2075
Marfan Syndrome
Aortic root aneurysm, Decreased muscle mass, Mitral regurgitation, Mitral valve prolapse, Reduced... OMIM:154700
Breath-Holding Spells
Pallor OMIM:607578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele, Calf muscle h... OMIM:253800
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec... ORPHA:2473
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Intrauterine growth re... ORPHA:1052
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Jejunoileal ulceration, Hepatitis, ... ORPHA:436252
Chops Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Aspiration pneumonia, Splenomega... OMIM:616368
Schwartz-Jampel Syndrome
Pursed lips, Narrow mouth, Myopathy, Hip contracture, Arrhythmia, Short neck, Everted lower lip v... ORPHA:800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic ca... ORPHA:228308
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hepatomegaly, Hypertension, Dehydration ORPHA:134
Mgat2-Cdg
Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Arrhythmia, Hy... ORPHA:79329
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Livedoid Vasculopathy
Skin ulcer, Macular purpura, Atrophic scars, Ischemic stroke, Ecchymosis, Venous insufficiency, T... ORPHA:542643
ERI1-related disease
Velopharyngeal insufficiency, Tricuspid regurgitation, Abnormal heart morphology, Intrauterine gr... OMIM:608739
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia, Edema ORPHA:90673
Enlarged Parietal Foramina
Cleft lip, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein... ORPHA:60015
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Natal tooth, Microglossia, Abnormal lung lobation, Atrioventricular canal... ORPHA:672
Neu-Laxova Syndrome 1
Joint contracture of the hand, Ventricular septal defect, Neonatal death, Short neck, Patent duct... OMIM:256520
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Hepatomegaly, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morphology, Ventric... ORPHA:1458
Incontinentia Pigmenti
Erythema, Skin ulcer, Delayed eruption of teeth, Congestive heart failure, Camptodactyly of finge... ORPHA:464
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Umbilical hernia, Elbow contracture, Intrauterine growth retardation, Inguinal h... OMIM:620275
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Downturned corners of mouth, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, ... OMIM:610759
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Cholestasis, Hepatic steatosis, Elevated circulating alanine aminotran... OMIM:619573
Radio-Tartaglia Syndrome
High, narrow palate, Dental crowding, Long philtrum, Dry skin, Striae distensae, Ventricular sept... OMIM:619312
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Holoprosencephaly
Abnormality of the spleen, Congenital diaphragmatic hernia, Encephalocele, Ventricular septal def... ORPHA:2162
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Umbilic... ORPHA:798
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation, Excessive wrinkled skin, Congestive heart failure ORPHA:137608
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Flexion contracture, Intrauterine growth retardation, Ventricular... ORPHA:79243
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Umbilical hernia, Tooth agenesis, Narrow mouth, Abnormality of the pancre... ORPHA:1555
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular se... OMIM:113000
Yunis-Varon Syndrome
Broad secondary alveolar ridge, Ventricular septal defect, Atrial septal defect, High, narrow pal... ORPHA:3472
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticul... ORPHA:90348
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Loss of truncal subcutaneous adipose ti... ORPHA:2463
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Dry skin, H... ORPHA:51
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Dental malocclusion, Umbilical hernia, Thick lower lip vermilion, T... ORPHA:85321
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Splenomegaly, Congestive heart failure ORPHA:90037
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly, Lymphadenopathy ORPHA:56425
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding tongue, Everted lower l... OMIM:610253
3Mc Syndrome 1
Cleft lip, Dental crowding, Cleft upper lip, Diastasis recti, Ventricular septal defect, Conjunct... OMIM:257920
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Edema, Umbilical hernia ORPHA:226316
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Ventricular septal defect, Thin up... OMIM:244450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Abnormal heart morphology, Patent foramen ovale, Congenital muscular torticollis, ... ORPHA:457279
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Delayed eruption of teeth, Aspiration pneumonia, Ab... ORPHA:1465
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Webbed neck, Elbow contracture, Elbow flexion contracture, Inguinal hernia, Knee flexion contract... OMIM:178110
Restrictive Dermopathy
Natal tooth, Large placenta, Narrow mouth, Atrial septal defect, Dextrocardia, Patent ductus arte... ORPHA:1662
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Anemic pallor, Tracheoe... OMIM:227646
Tolchin-Le Caignec Syndrome
Umbilical hernia, Cardiac rhabdomyoma, Diastasis recti, Narrow mouth, Submucous cleft hard palate... OMIM:618971
Pallister-Killian Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Short neck, At... OMIM:601803
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Intrauterine growth retardation, Ventricular septal defect, Anemic p... OMIM:227645
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Umbilical hernia, Dry skin, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:90674
Cerebrocostomandibular Syndrome
Webbed neck, Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Elbo... OMIM:117650
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Bohring-Opitz Syndrome
Cholelithiasis, Cleft lip, Congenital contracture, Annular pancreas, Prominent palatine ridges, I... ORPHA:97297
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Dental crowding, Downturned corners of mouth, Decreased liver function, Widely sp... OMIM:618268
H Syndrome
Cleft upper lip, Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangiect... ORPHA:168569
Noonan Syndrome 1
High, narrow palate, Webbed neck, Chylothorax, Dental malocclusion, Lymphedema, Hypertrophic card... OMIM:163950
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Large placenta, Short neck, Anal atresia, Patent ductus art... OMIM:249000
Roifman-Chitayat Syndrome
Pneumonia, Short neck, Thin lower lip vermilion, Umbilical hernia OMIM:613328
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Intrauterine growth retardation, O... OMIM:608670
Distal Duplication 5Q
Carious teeth, Long philtrum, Narrow mouth, Ventricular septal defect, Hernia, Aplasia/Hypoplasia... ORPHA:96097
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Thick ve... ORPHA:79280
Thauvin-Robinet-Faivre Syndrome
Thick vermilion border, Inguinal hernia, Mitral valve prolapse, Ventricular septal defect, Varico... OMIM:617107
Microform Holoprosencephaly
Duodenal atresia, Tetralogy of Fallot, Intrauterine growth retardation, Tented upper lip vermilio... ORPHA:280200
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Corneal scarring, Intrauterine growth retardation, Open mouth, High palate, Ventricular... OMIM:614653
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Recurrent respiratory infections, Pallor, Eosinophilia, Glossitis, Cheil... ORPHA:90045
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Peripheral pulmonary artery stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:300555
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Aortic root aneurysm, Mitral valve prolapse, Bicuspid aortic valve... OMIM:609192
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Skeletal muscle atrophy, Long philtrum, Umbilical hernia, Thin vermili... OMIM:614856
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... OMIM:301022
3Q29 Microduplication Syndrome
Abnormality of the dentition, Ventricular septal defect, Camptodactyly of toe, Short neck, Deep p... ORPHA:251038
Trisomy 18
Webbed neck, Narrow palate, Camptodactyly of finger, Intrauterine growth retardation, Oligohydram... ORPHA:3380
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Elevated circulating alani... OMIM:246450
Refractory Anemia With Excess Blasts
Bone marrow hypocellularity, Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema ORPHA:86839
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Hydromyelia, Umbilical hernia, Dry skin, Oligohydra... OMIM:308205
Dravet Syndrome
Pallor ORPHA:33069
Trisomy 8P
Bifid uvula, Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, ... ORPHA:264450
Sotos Syndrome
High, narrow palate, Narrow palate, Muscular ventricular septal defect, Ventricular septal defect... OMIM:117550
Phelan-Mcdermid Syndrome
Cellulitis, Dental malocclusion, Long philtrum, Lymphedema, Widely spaced teeth, Ventricular sept... OMIM:606232
Filippi Syndrome
Thin vermilion border, Intrauterine growth retardation, Short philtrum, Ventricular septal defect ORPHA:3255
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Long philtrum, Dry skin, Exaggerated cupid's bow, Ventricular septal defect, Th... OMIM:619306
Myhre Syndrome
Aortic valve stenosis, Cleft lip, Skeletal muscle hypertrophy, Pericardial effusion, Intrauterine... OMIM:139210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul... ORPHA:352665
Short Stature-Micrognathia Syndrome
Intrauterine growth retardation, Ventricular septal defect, High palate, Cleft palate, Skeletal m... OMIM:617164
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia OMIM:620306
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, High palate, Abnormal heart morphology, Myelomeningocele, Hamartoma... OMIM:311200
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Patent... OMIM:613309
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Ventricular septal ... OMIM:619103
Fryns Syndrome
Joint contracture of the hand, Ventricular septal defect, Short neck, Atrial septal defect, Anal ... OMIM:229850
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Open mouth, Bicuspid aortic valve, Tetralogy of Fallot,... ORPHA:261537
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia ORPHA:90033
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Carious teeth, Eruption failure, Congestive he... OMIM:182250
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Intrauterine growth retardation, Ventricular septal def... OMIM:301030
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular... OMIM:614961
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Sotos Syndrome
Ankle flexion contracture, Small cell lung carcinoma, Abnormality of the dentition, Umbilical her... ORPHA:821
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... OMIM:610978
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Atypical scarri... ORPHA:534
Werner Syndrome
Lipoatrophy, Chondrocalcinosis, Skeletal muscle atrophy, Skin ulcer, Abnormal cerebral vascular m... ORPHA:902
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Periorbita... ORPHA:1299
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, High palate, Umbilical hernia OMIM:614520
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Thin skin, Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinkl... OMIM:601559
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotat... OMIM:263520
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Multiple lipomas, High... OMIM:617675
Retinitis Pigmentosa 51
Pallor OMIM:613464
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Atriove... ORPHA:289
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hyphema, Open mouth, Ventricular septal defect, Bicuspi... ORPHA:261552
Thyroid Hemiagenesis
Macroglossia, Jaundice, Umbilical hernia ORPHA:95719
Dermatomyositis
Cellulitis, Erythema, Abnormal eosinophil morphology, Dry skin, Lung adenocarcinoma, Arrhythmia, ... ORPHA:221
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration OMIM:615234
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Hepatosplenomegaly, Intrauterine ... OMIM:614866
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Cleft palate, Ventricular septal defect ORPHA:1934
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Long philtrum, Mitral regurgitation, Ventricular septal defect, Solitary ... ORPHA:261250
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Abnormal dental morphology, Mitral regurgitation, Ventr... OMIM:277600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Lymphadenitis, Hepatosplenomegaly, Abnor... ORPHA:331206
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Skin ulcer,... ORPHA:2072
Familial Visceral Myopathy
Abdominal situs inversus, Umbilical hernia, Camptodactyly of finger, Aganglionic megacolon, Aplas... ORPHA:2604
Otopalatodigital Syndrome, Type Ii
Stillbirth, Umbilical hernia, Elbow contracture, Narrow mouth, Short neck, Atrial septal defect, ... OMIM:304120
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Hypoplastic aortic arch, Open mouth, Inguinal hernia ORPHA:457284
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Icf Syndrome
Macroglossia, Recurrent respiratory infections, Protruding tongue, Umbilical hernia ORPHA:2268
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Protruding tongue, Redundant neck skin, Ventricular septal defect, Intrahepa... OMIM:214100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Amme Complex
Umbilical hernia, Intrauterine growth retardation, Diastasis recti, Inguinal hernia, Thin upper l... OMIM:300194
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Selective tooth agenesis, Cleft upper lip, Widely spaced teeth, Ventric... OMIM:106260
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Long philtrum, Camptodactyly of finger, Tricuspid regurgitation, ... ORPHA:261337
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Dental crowding, Branchial cyst, Knee flexion contracture, Thin upper ... ORPHA:435938
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Dental crowding, Tortuous cerebral arteries,... OMIM:619329
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Contractures of the large joints, Ventricular septa... ORPHA:3078
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect ORPHA:494344
Chromosome 16P13.3 Duplication Syndrome
Webbed neck, Bifid uvula, Long philtrum, Tetralogy of Fallot, Facial hypotonia, Inguinal hernia, ... OMIM:613458
16P13.11 Microdeletion Syndrome
Cleft upper lip, Camptodactyly of finger, Exaggerated cupid's bow, Ventricular septal defect, Thi... ORPHA:261236
Okamoto Syndrome
Aortic valve stenosis, Webbed neck, Anal stenosis, Exaggerated median tongue furrow, Downturned c... ORPHA:2729
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short neck, Inguinal hernia, Umbilical hernia ORPHA:3218
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Long philtrum, Tetralogy of Fallot, Atrioventricular canal defect, Exocrine... ORPHA:508498
Brain-Lung-Thyroid Syndrome
Webbed neck, Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Hypodontia, Pu... ORPHA:209905
Autosomal Dominant Robinow Syndrome
High, narrow palate, Downturned corners of mouth, Long philtrum, Umbilical hernia, Camptodactyly ... ORPHA:3107
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Dental malocclusion, Diastema, Short lingual frenulum, Congenital diaphrag... ORPHA:96121
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Short neck, Atrial septal defect, Pat... ORPHA:818
Plummer-Vinson Syndrome
Pallor, Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue ... ORPHA:54028
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Narrow mouth, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Ma... OMIM:613457
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Cardiomyopathy, Dry skin, Intrauterine growth reta... ORPHA:769
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Hepatic failure, Elevated circulating hepatic transaminase ... OMIM:118450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defec... OMIM:619575
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Peptic ulcer, Pallor, Splenomegaly, Eosinophilia, Syncope, Lymphadenopathy, Hepatome... ORPHA:98849
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Agenesis of pe... ORPHA:251028
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Vent... OMIM:274000
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Hernia, Umbilical hernia ORPHA:3197
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pneumonia, Umbilical hernia, Widely spaced teeth, Hepatosplenomegaly, Mitra... ORPHA:309282
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular sept... ORPHA:1393
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Long philtrum, Dilatation of the ventricular cavity, Polyhydramnios, Inguinal hernia, Narrow mout... ORPHA:459070
Limb Body Wall Complex
Cleft lip, Abdominal wall defect, Abnormal heart morphology, Myelomeningocele, Abnormality of the... ORPHA:2369
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Ventric... OMIM:212066
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Cleft lip, Umbilical hernia, Hepatosplenomegaly, Open mouth, Cholecystitis, Evert... OMIM:301066
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Stroke, Pulmonary arteriovenous malformation ORPHA:268943
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Submucous cleft hard palate,... ORPHA:3047
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Webbed neck, Hypertrophic cardiomyopathy, Inguinal hernia, Ventricular sept... OMIM:607721
Craniofrontonasal Syndrome
Webbed neck, Abnormality of the dentition, Cleft upper lip, Umbilical hernia, Congenital diaphrag... OMIM:304110
Whim Syndrome
Pneumonia, Cellulitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphad... ORPHA:51636
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Median cleft upper lip, H... OMIM:617088
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Capillary malformation of the lip, Venous malformation, Varicose veins OMIM:613089
Proteus-Like Syndrome
Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Open bite, Splenomegaly, Venous insuf... ORPHA:2969
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Anemic pallor OMIM:600901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Atrial septal defect, High palate, Patent ductus arteriosus, A... OMIM:612474
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Deep philtrum, Esophageal atresia, Atrial septal defect, Cleft palate OMIM:610536
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis, Hepatomegaly,... ORPHA:348
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Umbilical... OMIM:180700
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Recurrent pneumonia, Long philtrum, Umbilical hernia, Recurrent bronchitis, Ventricu... OMIM:620330
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Widely spaced teeth, Intrauterine growth retardatio... OMIM:301044
9P13 Microdeletion Syndrome
Dry skin, High palate, Umbilical hernia ORPHA:324313
Costello Syndrome
Webbed neck, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventr... OMIM:218040
Cornelia De Lange Syndrome 1
Pneumonia, High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth... OMIM:122470
Teebi-Shaltout Syndrome
Aortic valve stenosis, High, narrow palate, Prominent palatine ridges, Narrow mouth, Ventricular ... OMIM:272950
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Abnormal lung lobation, Encephalocele, Omphalocele, Ectopia cordi... OMIM:217100
Larsen Syndrome
Cleft upper lip, Intrauterine growth retardation, Ventricular septal defect, Hypodontia, Aortic a... OMIM:150250
Irida Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis, Pallor ORPHA:209981
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Arrhythmia, Flexion contracture of finger, Hepatomegaly, Recurrent sinusitis, Lymphaden... OMIM:256040
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal angiodysplasia, Hepatic steatosis, Bicuspid... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal angiodysplasia, Hepatic steatosis, Bicuspid... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal angiodysplasia, Hepatic steatosis, Bicuspid... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal angiodysplasia, Hepatic steatosis, Bicuspid... ORPHA:881
Juvenile Polyposis Syndrome
Arteriovenous malformation, Colon cancer, Stomach cancer, Narrow mouth, Juvenile gastrointestinal... ORPHA:2929
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular... OMIM:618278
Dysosteosclerosis
Abnormal dental enamel morphology, Delayed eruption of teeth, Ventricular septal defect ORPHA:1782
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Omphalocel... OMIM:130650
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Anemic pallor OMIM:227650
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Pallor, Supraventricul... ORPHA:91347
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Umbilical hernia, Dry skin, Redundant skin, Excessive wrinkled skin, Mic... ORPHA:920
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Renal Agenesis
Oligohydramnios, Ventricular septal defect, Anal atresia, Hypertension, Pulmonary hypoplasia ORPHA:411709
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Tetralogy of Fallot, Hamartoma of tongue, Absent gallbladder, Complete at... OMIM:617925
Clapo Syndrome
Lymphedema, Capillary malformation of the lip, Venous malformation, Varicose veins ORPHA:168984
2Q31.1 Microdeletion Syndrome
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Inguinal hernia, Ventricular... ORPHA:251014
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Oligodontia, Smooth philtrum, Umbilical hernia OMIM:619234
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy... OMIM:614947
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Abnormal tongue morphology, Cervical lymphadenopathy, Ganglioneuromatosis, P... ORPHA:653
Zttk Syndrome
Aortic regurgitation, Bifid uvula, Abnormality of the dentition, Downturned corners of mouth, Int... OMIM:617140
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Mitral atresia, Thin upper lip vermilion, Pulmonary artery stenosis, Abnorm... ORPHA:140952
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena ORPHA:98870
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Zellweger Syndrome
Hepatic failure, Ventricular septal defect, Hepatomegaly, Jaundice, High palate, Pyloric stenosis ORPHA:912
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog... OMIM:619525
Codas Syndrome
Delayed eruption of teeth, Atrioventricular canal defect, Ventricular septal defect, Enamel hypop... OMIM:600373
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Rectal polyposis, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small... ORPHA:329971
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Thick vermilion border, Inguinal hernia, Mitral valve prolap... ORPHA:500095
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... ORPHA:774
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Smooth philtrum, Umbilical hernia ORPHA:1778
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Intrauterine growth retardation, Complete atrioventricu... OMIM:236680
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor, Stomatitis OMIM:246400
Autosomal Dominant Spastic Paraplegia Type 10
Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac... ORPHA:100991
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Atypical scarring of skin, Aortic dissection, Camptodactyly of ... ORPHA:60030
Igg4-Related Kidney Disease
Arteritis, Lymphadenitis, Retroperitoneal fibrosis, Decreased liver function, Abnormal mesentery ... ORPHA:449395
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Tricuspid regurgitation, Ventricular septal defect, Pulmonary arter... OMIM:620663
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Smooth philtrum, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly,... OMIM:277400
Duane-Radial Ray Syndrome
Anal stenosis, Pectoralis hypoplasia, Ventricular septal defect, Aganglionic megacolon, Atrial se... OMIM:607323
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus... OMIM:617063
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelopathy, Lower limb muscle weakness, Distal lower limb amyotrophy, Venous... ORPHA:79093
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Townes-Brocks Syndrome 1
Anal stenosis, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Tracheoesophagea... OMIM:107480
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Lower limb muscle weakness, Facial wrinkling, Dry skin, Decreased adipo... OMIM:606721
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short neck, Ventricular septal defect OMIM:620073
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Skeletal muscle atrophy, Long philtrum, Oligohydramnios, Diastasis recti, Te... ORPHA:488632
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ventricular septal defect, Hernia of the abdominal wall, Arrhythmia, Hyp... ORPHA:3138
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Esophagitis, Inguinal hernia, Umbilical hernia ORPHA:79351
Femoral-Facial Syndrome
Long philtrum, Camptodactyly of finger, Inguinal hernia, Encephalocele, Truncus arteriosus, Ventr... OMIM:134780
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Duodenal atresia, Intraut... ORPHA:464311
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Dental crowding, Widely spaced teeth, Tricuspid regurgitation, Abnormal left... ORPHA:466791
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congestive heart failu... ORPHA:14
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... ORPHA:2461
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Oligodontia, Aganglionic megacolon, Short neck, ... OMIM:609460
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Cleft upper lip, Tetralogy of Fallot, Wide mouth, Congenital diaphr... OMIM:154400
Johanson-Blizzard Syndrome
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se... OMIM:243800
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Elbow flexion contracture, Muscular ventricula... OMIM:210710
Arboleda-Tham Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Downturn... OMIM:616268
Incontinentia Pigmenti
Erythema, Conical tooth, Delayed eruption of teeth, Pallor, Oligodontia, Hypodontia, Eosinophilia... OMIM:308300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Downturned corners of mouth, Long philtrum, Congestive heart failure, Abnor... ORPHA:444077
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Long philtrum, Camptodactyly of finger, Abnormal heart ... ORPHA:1606
3Mc Syndrome
Downturned corners of mouth, Umbilical hernia, Diastasis recti, Orofacial cleft, Spina bifida occ... ORPHA:293843
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Brittle Cornea Syndrome 2
Inguinal hernia, Umbilical hernia OMIM:614170
Pauci-Immune Glomerulonephritis
Arteritis, Pulmonary hemorrhage, Oral ulcer, Abnormality of the pulmonary vasculature, Pancreatit... ORPHA:93126
Renpenning Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Macrodontia, Situs inversus totalis, Narrow m... OMIM:309500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C... OMIM:600376
Neuroocular Syndrome 1
Short uvula, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, Ankyloglossia, P... OMIM:619539
Hyperekplexia 1
Inguinal hernia, Umbilical hernia OMIM:149400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Spinal dysraphism, Venous malformation, Splenomegaly, Lipoma OMIM:612918
Imerslund-Gräsbeck Syndrome
Tachycardia, Glossitis, Angular cheilitis, Pallor ORPHA:35858
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Mitral valve prolapse, V... OMIM:616202
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hernia, Cerebral hemorrhage, ... OMIM:616682
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Ventricular septal defect OMIM:234050
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Umbilical hernia OMIM:617952
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Umbilical hernia, Short neck, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:226307
Bladder Exstrophy
Umbilical hernia, Intestinal malrotation, Inguinal hernia, Abnormality of the anus, Omphalocele, ... ORPHA:93930
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Annular pancreas, Duodenal atresia, Furrowed tongue, Intrauteri... OMIM:616975
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep... ORPHA:300298
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Atrial septal defect, High palate, Thin vermilion border, Double inlet left ... OMIM:619869
Meier-Gorlin Syndrome 6
Umbilical hernia, Emphysema, Thick vermilion border, Recurrent respiratory infections, Cleft palate OMIM:616835
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Cleft lip, Biventricular hypertrophy, Median pseudocleft lip, Intraute... OMIM:616462
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Duodenal atresia, Intrauterine growth retardation, O... ORPHA:464306
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Mosaic Trisomy 20
Cleft lip, Long neck, Intrauterine growth retardation, Abnormal mitral valve morphology, Dysplast... ORPHA:1724
Adnp Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Thick lower lip vermilion, Inguin... ORPHA:404448
Orofaciodigital Syndrome Type 14
Webbed neck, Lobulated tongue, Hamartoma of tongue, Ventricular septal defect, Aplasia of the epi... ORPHA:434179
Jacobsen Syndrome
Annular pancreas, Recurrent respiratory infections, Intrauterine growth retardation, Ventricular ... OMIM:147791
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... OMIM:192350
Mowat-Wilson Syndrome
Tooth malposition, Pyloric stenosis, Abnormal enteric ganglion morphology, Delayed eruption of te... OMIM:235730
Aregenerative Anemia
Bone marrow hypocellularity, Pallor, Lymphadenopathy ORPHA:101096
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, A... ORPHA:97289
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Increased intraabdominal fat ORPHA:91349
Martin-Probst Syndrome
Dental malocclusion, Thick lower lip vermilion, Umbilical hernia, Telangiectasia, Wide mouth OMIM:300519
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Wide mouth, Duodenal atresia, Ventricular septal defect OMIM:617798
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic... OMIM:260400
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Myelomeningoce... OMIM:305600
Gitelman Syndrome
Chondrocalcinosis, Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdom... ORPHA:358
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Vascular granular osmiophilic material deposition, Stroke, Varicose veins OMIM:125310
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Skin ulcer, Respiratory tract infection, Arrhythmia, Cerebral ede... ORPHA:68
Menke-Hennekam Syndrome 1
Recurrent upper respiratory tract infections, Everted upper lip vermilion, Long philtrum, Umbilic... OMIM:618332
Sheehan Syndrome
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, Torticollis, ... OMIM:619475
Aspartylglucosaminuria
Abnormality of the dentition, Carious teeth, Umbilical hernia, Gingival overgrowth, Inguinal hern... ORPHA:93
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Dilated cardiomyopathy, Aortic root aneurysm, Cleft upper lip, Camptodactyly of fing... OMIM:607872
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology, Multiple lipomas, Telangiectas... ORPHA:276280
Leigh Syndrome
Hepatic failure, Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, ... ORPHA:506
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, Open mouth, Hand muscle at... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Abnormal dental morphology, Open mouth, Hand muscle at... ORPHA:363958
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Delayed eruption of teeth, ... OMIM:143095
Fanconi Anemia, Complementation Group N
Short neck, Anal atresia, Atrial septal defect, Ventricular septal defect OMIM:610832
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Umbilical hernia OMIM:619636
Thyroid Ectopia
Macroglossia, Jaundice, Dry skin, Umbilical hernia ORPHA:95712
Cohen-Gibson Syndrome
Camptodactyly, Flexion contracture, Patent ductus arteriosus, Umbilical hernia OMIM:617561
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Thick vermilion border, Ventricular septal defect OMIM:250410
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Torticollis, Varicose veins OMIM:314300
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Camptodactyly of finger, Tetralogy of Fallot, Pectoral m... ORPHA:306542
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Widely spaced teeth, Abnormal heart morphology, Intr... ORPHA:268261
Retinitis Pigmentosa 75
Pallor OMIM:617023
Occipital Horn Syndrome
High, narrow palate, Atypical scarring of skin, Keloids, Hepatitis, Long philtrum, Cholestasis, E... ORPHA:198
Kabuki Syndrome 1
Abnormality of the dentition, Anal stenosis, Anoperineal fistula, Intestinal malrotation, Ventric... OMIM:147920
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Proteus Syndrome
Pulmonary cyst, Carious teeth, Arteriovenous malformation, Decreased muscle mass, Myofibrillar my... ORPHA:744
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Occipital encephalocele, Anteriorly placed anus, Hamartoma of tongue, Ven... OMIM:615948
Liposarcoma
Varicose veins ORPHA:69078
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati... ORPHA:71273
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Prolactinoma
Hypotension, Pallor ORPHA:2965
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal lung lobation, Mye... ORPHA:2052
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Dry skin, Bradycardia OMIM:218700
Hyperlysinemia
Smooth philtrum, Pulmonary artery hypoplasia, Recurrent pneumonia, High palate ORPHA:2203
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Long philtrum, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Short neck... OMIM:271640
Monosomy 22Q13.3
Dental malocclusion, Dental crowding, Lymphedema, Umbilical hernia, Palpebral edema ORPHA:48652
Childhood Absence Epilepsy
Pallor ORPHA:64280
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:620558
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Aspiration pneumonia, Abnormal heart morphology, Pate... ORPHA:438213
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Stillbirth, Cleft upper lip, Elbow flexion contractu... OMIM:268300
Wolf-Hirschhorn Syndrome
Accessory spleen, Webbed neck, Malrotation of small bowel, Downturned corners of mouth, Decreased... OMIM:194190
Penile Agenesis
Bilateral lung agenesis, Oligohydramnios, Cloacal abnormality, Ventricular septal defect, Tracheo... ORPHA:49
Neuroblastoma
Anemic pallor, Hypertension, Lymphadenopathy ORPHA:635
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Microphthalmia With Limb Anomalies
Camptodactyly of 2nd-5th fingers, Long philtrum, Cleft upper lip, Macrodontia, Venous insufficien... ORPHA:1106
Tetraamelia Syndrome 1
Cleft upper lip, Congenital diaphragmatic hernia, Asplenia, Anal atresia, Peripheral pulmonary ve... OMIM:273395
Glomuvenous Malformation
Oral mucosa nodule, Venous malformation, Arteriovenous malformation, Gastrointestinal arterioveno... ORPHA:83454
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Hypertrophic cardiomyopathy, Abnormal heart morph... ORPHA:363700
Varicose Veins
Varicose veins OMIM:192200
Yunis-Varon Syndrome
Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Intrauterine growth retardation, Prema... OMIM:216340
Cornelia De Lange Syndrome
Downturned corners of mouth, Long philtrum, Widely spaced teeth, Intestinal malrotation, Delayed ... ORPHA:199
Proboscis Lateralis
Long philtrum, Ventricular septal defect, Orofacial cleft, Agenesis of canine, High palate, Paten... ORPHA:141099
Craniotubular Dysplasia, Ikegawa Type
Thick upper lip vermilion, Thick lower lip vermilion, Long philtrum, Ventricular septal defect OMIM:619727
Genitopatellar Syndrome
Anal stenosis, Malrotation of small bowel, Delayed eruption of teeth, Anteriorly placed anus, Kne... OMIM:606170
Ulnar-Mammary Syndrome
Anal stenosis, Elbow flexion contracture, Inguinal hernia, Ventricular septal defect, Hypodontia,... OMIM:181450
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Downturned corners of mouth, Intrauterine growth retardation, Ventricular septal d... OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor, Everted lower lip vermilion OMIM:253280
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Absent pulmonary artery, Long philtrum, Hypoplastic pulmonary veins OMIM:610682
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Pal... OMIM:233450
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Thin vermilion border, Venous insufficiency ORPHA:649
Epilepsy, Familial Focal, With Variable Foci 3
OMIM:617118

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 Nprl3

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 Nprl3.

No publications found that use IMPC mice or data for Nprl3.

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
Nprl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nprl3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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