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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,  Prox1,  Mare,  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, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec... OMIM:601927
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, ... OMIM:617022
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... ORPHA:1166
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Atypical scarring of skin, Abn... ORPHA:294975
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Velocardiofacial Syndrome
Inguinal hernia, Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard pa... OMIM:192430
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... ORPHA:90308
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno... ORPHA:3304
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... ORPHA:185
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo... ORPHA:477817
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... OMIM:616920
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Neonatal death, Diaphragmatic even... OMIM:608978
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... OMIM:600001
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... ORPHA:1110
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Neonatal death, Atrial septal def... OMIM:601186
Ethanolaminosis
Cardiomegaly OMIM:227150
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short lingual frenulum, Anomalous origin of left coronary artery from the p... ORPHA:2326
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Hernia, ... ORPHA:2255
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Thin upper lip vermilion, Mesenteric cyst, Recurrent respiratory infections, Exagger... OMIM:618316
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:1926
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphol... OMIM:300845
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... ORPHA:615
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... ORPHA:3426
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... OMIM:179613
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Ehlers-Danlos Syndrome, Periodontal Type, 2
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... OMIM:617174
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... OMIM:615731
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Atrial... ORPHA:290
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Congenital Tracheomalacia
Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Esophageal atresia, Patent ductu... ORPHA:95430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic left heart, P... OMIM:220210
Transient Neonatal Diabetes Mellitus
Dehydration, Abnormal heart morphology, Macroglossia, Umbilical hernia, Intrauterine growth retar... ORPHA:99886
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Congenital Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal EKG, Edema, Protruding tongue, Respiratory tract infectio... ORPHA:93400
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... OMIM:239850
Dextrocardia
Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, ... ORPHA:1666
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Catel-Manzke Syndrome
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Shor... OMIM:616145
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Abnormal heart morphology, Wide mout... OMIM:614608
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... OMIM:619657
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Short neck, Patent ductus arteriosus, Alveolar ridg... OMIM:612938
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Inter... ORPHA:250989
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... ORPHA:2306
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, High palate, Bif... OMIM:208050
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, High, narrow palate, Abnormal lung lobation, Cleft palate,... ORPHA:2516
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... ORPHA:244
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, Tela... ORPHA:101028
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios,... OMIM:164280
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Abnormal heart morphology, Congenital contracture, Short philtrum, Joint contrac... ORPHA:352490
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Edema, Polyhydramn... OMIM:267000
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal... ORPHA:2059
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Combined Oxidative Phosphorylation Deficiency 31
Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus... OMIM:300712
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Fac... OMIM:256550
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Prominent superficial veins, Inguinal hernia, Redundant skin, Carotid artery sten... OMIM:618000
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... ORPHA:2872
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... OMIM:612946
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Pallor, Generalized amyotr... OMIM:613561
Eng-Strom Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C... ORPHA:1937
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... OMIM:603387
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Skeletal muscle at... ORPHA:17
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... OMIM:618164
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus... ORPHA:163979
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congest... ORPHA:3386
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... OMIM:249670
Alg3-Cdg
Lipodystrophy, Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Neural tu... ORPHA:79321
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Ever... ORPHA:261120
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... OMIM:301056
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... OMIM:616652
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... OMIM:619717
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Decreased muscle ... ORPHA:2962
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... ORPHA:254534
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dias... ORPHA:329224
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis... OMIM:601005
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrop... ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malocclusion, Myoca... OMIM:253250
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Abnorm... ORPHA:93399
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Deep philtrum, Micronodular ci... OMIM:606003
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... OMIM:616276
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu... ORPHA:391641
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Cleft lip, Splenomegaly, Jaundice, Patent ductus art... OMIM:251290
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... OMIM:115470
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Tetralogy Of Fallot
Intrauterine growth retardation, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... ORPHA:251076
Chromosome 18Q Deletion Syndrome
Short neck, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Dyspl... OMIM:601808
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... ORPHA:2876
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... ORPHA:3405
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Tetralogy of Fallot OMIM:615542
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Emphy... ORPHA:363618
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent duc... OMIM:618652
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin, High palate ORPHA:1035
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Gingival overgrowth, Hydrops ... OMIM:269920
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short neck, Patent ductus arteriosus, Short philtrum, Abnormal oral cavity morphology, Umbilical ... ORPHA:1516
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Cleft upper lip, Short ne... OMIM:612582
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... ORPHA:371428
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Abnormal heart morph... ORPHA:401935
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology,... ORPHA:1131
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly, Atrial septal defe... OMIM:614846
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Adams-Oliver Syndrome 5
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Pulmonary... OMIM:616028
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Hypoplasia of ... OMIM:613177
Digeorge Syndrome
High, narrow palate, High palate, Short philtrum, Hypoplasia of the thymus, Hepatic steatosis, Bi... OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... ORPHA:261311
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis, Atrial septal def... ORPHA:1388
Lateral Meningocele Syndrome
Inguinal hernia, Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Ventricular septa... OMIM:130720
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis... ORPHA:3099
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal... OMIM:618205
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retar... ORPHA:2515
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short neck, Abnormal heart morphology, Downturned corners of mouth, Ma... ORPHA:369891
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly,... ORPHA:1296
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Meningocel... ORPHA:2311
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... ORPHA:99931
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... OMIM:605376
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ... ORPHA:137834
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Cervical lymphadenop... ORPHA:2331
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Median cleft lip, Overriding aorta, Orofacial cleft, Tetralogy o... ORPHA:3186
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Long uvula, Widened atrophic scar, Redundant skin, Carotid arter... ORPHA:536532
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Mitral valve prolapse, Aortic r... OMIM:130000
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni... OMIM:219100
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... OMIM:614921
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Webbed neck, Short philtrum, Widely spaced teeth, Hepatomegaly, Elevated circulating aspartate am... OMIM:280000
Rin2 Syndrome
Irregular dentition, Redundant skin, Gingival overgrowth, Upper eyelid edema, Abnormal lip morpho... ORPHA:217335
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect... OMIM:617506
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, Persistence of primary teeth, Short neck, Patent ductus a... OMIM:201000
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip ORPHA:1919
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... ORPHA:2396
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Intrauterin... ORPHA:858
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Anteriorly placed anus, Tetralogy of Fallot, Supravalv... OMIM:618624
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Fg Syndrome Type 1
Inguinal hernia, Dental crowding, Progressive flexion contractures, Abnormal large intestine morp... ORPHA:93932
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, High, narrow palate, Wrist drop, Muscle fiber atrop... ORPHA:1900
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Thin skin, Tetralogy of Fa... OMIM:613630
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of to... OMIM:175700
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Mediastinal lymphadeno... ORPHA:397
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Hernia, Abnormal dental morphology, Abnor... ORPHA:2092
Apert Syndrome
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... OMIM:101200
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... OMIM:618011
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgro... ORPHA:96191
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... ORPHA:2143
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3033
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Pagod Syndrome
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Situs inversus totalis... ORPHA:991
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Deep philtrum, Patent ductus arterio... ORPHA:163956
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Perio... ORPHA:904
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... OMIM:615879
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Lower limb hyperton... OMIM:169400
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdo... ORPHA:2990
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Recurrent upper respiratory tract infections, Asymme... OMIM:252900
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... ORPHA:1923
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Short neck, Patent ductus arteriosus, Wide mouth, ... ORPHA:1517
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... ORPHA:1667
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intrac... ORPHA:3226
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Pulmo... OMIM:618330
Houge-Janssens Syndrome 3
Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... OMIM:618354
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Recurre... ORPHA:2745
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Palmoplantar cut... OMIM:615355
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... OMIM:615834
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... OMIM:618494
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... OMIM:612561
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Short neck, Lymphe... ORPHA:584
Aneurysm-Osteoarthritis Syndrome
High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Patent ductus arteriosu... ORPHA:284984
German Syndrome
Camptodactyly of finger, Short neck, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphol... ORPHA:2077
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Orofacial cleft ORPHA:3434
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Diaphragmatic eventration, In... OMIM:600252
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Abnormal... OMIM:309900
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology... ORPHA:314588
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... OMIM:300280
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Achondrogenesis
Inguinal hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lo... ORPHA:932
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... OMIM:300855
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow pala... OMIM:618223
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Thomas Syndrome
Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Distal Deletion 15Q
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia,... ORPHA:1596
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Redundant nec... OMIM:235255
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Short philt... ORPHA:1507
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Inte... ORPHA:1199
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Charge Syndrome
Polyhydramnios, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Ov... OMIM:214800
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... OMIM:616977
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Hydrops... OMIM:616897
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Umbi... ORPHA:1770
Charge Syndrome
Delayed eruption of teeth, Aortic arch aneurysm, Facial palsy, Polyhydramnios, Cleft upper lip, A... ORPHA:138
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Inguinal hernia, Abnormal heart morphology, Everted lower lip vermilion, Short phi... OMIM:601499
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... ORPHA:2476
Achondrogenesis, Type Ib
Inguinal hernia, Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Umbilical hernia OMIM:600972
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Intrauterine growth retardation, Truncus arteriosus, Smoo... OMIM:611867
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Accessory oral frenulum ORPHA:1373
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Malabsorption, Periorbital edema, Splenomeg... ORPHA:33226
Meester-Loeys Syndrome
Striae distensae, Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border... OMIM:615502
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydra... OMIM:608149
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... OMIM:617168
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Pulmonary artery stenosis,... ORPHA:251071
Chondrodysplasia, Blomstrand Type
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta OMIM:215045
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... OMIM:618454
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtr... ORPHA:567
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... OMIM:616589
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Pedal edema, He... ORPHA:422
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of... OMIM:618914
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Short neck... OMIM:607014
Macs Syndrome
Irregular dentition, Dilation of Virchow-Robin spaces, Palpebral edema, Redundant skin, Gingival ... OMIM:613075
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Hepatomegaly, Aortic arch aneurysm, Splenomegaly, Patent ductus arteri... OMIM:135500
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia ORPHA:3469
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital ... OMIM:618846
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... ORPHA:915
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... ORPHA:284169
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Anteriorly p... ORPHA:1488
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Short neck, Patent ductus arteriosus, Bilateral cleft lip and palate, Abn... ORPHA:2001
Down Syndrome
Redundant neck skin, Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complet... OMIM:190685
Achondrogenesis Type 1B
Femoral hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lon... ORPHA:93298
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Pu... OMIM:300887
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... OMIM:600325
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... OMIM:232300
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... OMIM:619170
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial... ORPHA:75249
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Thick vermilion border, Cardiomegaly ORPHA:3137
Lymphatic Malformation 6
Genital edema, Prune belly, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomeg... OMIM:616843
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial septal defect, Patent ... OMIM:619189
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... OMIM:609029
Achondrogenesis Type 1A
Femoral hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lon... ORPHA:93299
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Short neck, Splenomegaly, Flexion... OMIM:253220
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... OMIM:614294
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Patent ductus art... ORPHA:2847
Ehlers-Danlos Syndrome, Periodontal Type, 1
Alveolar bone loss around teeth, Prominent superficial veins, Inguinal hernia, Hiatus hernia, Int... OMIM:130080
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Redundant umbilical skin, Clef... OMIM:614557
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Meningoc... ORPHA:1908
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short neck, Bone marrow hypocellularity, Pallor, Atrial septal defect,... OMIM:609053
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia, Intrauterine growth retardation, Severe intrauterine growth retardation, Oligoh... ORPHA:231144
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:95717
Intellectual Disability, Buenos-Aires Type
Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal cardiac septum morphology, H... ORPHA:3079
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Noonan Syndrome 10
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, P... OMIM:616564
Noonan Syndrome 9
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck OMIM:616559
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Inguinal hernia, Recurrent respiratory infections, Abnorma... ORPHA:576
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
Roifman Syndrome
Thin upper lip vermilion, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, ... OMIM:616651
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... ORPHA:2970
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... ORPHA:3260
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Abnormal mitral valve morphology, Wide mouth, Long philtrum, Atrial septal defec... ORPHA:1292
Muscular Hypertonia, Lethal
Umbilical hernia, Pneumonia OMIM:254120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Intrauterine growth retardation, Hypertension, Arrhythmia, Long philtrum, Neonat... OMIM:614052
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Wide mouth, Hypertension, Median... OMIM:619758
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges OMIM:314320
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios... ORPHA:1692
Opitz Gbbb Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth... OMIM:300000
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia ORPHA:2349
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Paroxysmal supraventricular tachycardia, Pierre-Robin ... OMIM:617877
Ogden Syndrome
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Torticollis, High, narro... ORPHA:276432
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum ORPHA:94066
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Ascending aorta hypoplasi... ORPHA:141127
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Short neck, High palate, Long philtrum, Umbilical hern... OMIM:613544
Hajdu-Cheney Syndrome
Short neck, Downturned corners of mouth, Periodontitis, Hernia, Hepatomegaly, Open bite, Patent d... ORPHA:955
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Redundant skin, High, narrow palate, Hypoplasia of the abdominal wall musc... OMIM:612289
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Short neck, Patent ductus arteriosus, Cholestasis, Perimembranous ventricula... OMIM:608104
Distal Deletion 3P
Inguinal hernia, Short neck, Cleft palate, Downturned corners of mouth, Thin vermilion border, Hi... ORPHA:1620
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, High, narrow palate, Cleft palate, Narrow palate, High... OMIM:615102
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, Ventricular septal defect, High palate, Inguinal hernia ORPHA:3369
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, W... OMIM:615668
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega... OMIM:614576
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Tra... OMIM:314390
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Dental crowding, Short neck, High, narrow palate, Men... ORPHA:2789
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphology, Peripheral ... ORPHA:217085
Robinow Syndrome
Dental crowding, Orofacial cleft, Atrial septal defect, Persistence of primary teeth, Gingival ov... ORPHA:97360
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... ORPHA:513456
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Redundant neck skin, Congenital diaphragmatic herni... ORPHA:96170
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... OMIM:301043
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa... ORPHA:1120
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Open mouth, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Intestinal malrotation, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:617602
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... ORPHA:568051
Mucopolysaccharidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... ORPHA:580
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Abnormal h... ORPHA:261652
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Opitz-Kaveggia Syndrome
Anal stenosis, Multiple joint contractures, Dental crowding, Intestinal malrotation, Inguinal her... OMIM:305450
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... OMIM:605275
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
3C Syndrome
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Intestinal malrotat... ORPHA:7
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphology, Peripheral ... ORPHA:217093
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia, Dry skin OMIM:275100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... OMIM:613870
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fe... OMIM:232500
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Patent ductus arteriosus, Thin vermilion border, Long philtrum ORPHA:171839
Immunodeficiency 49
Natal tooth, Psoriasiform dermatitis, Eosinophilia, Pulmonary artery stenosis, Cutis laxa, Short ... OMIM:617237
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Comp... OMIM:619343
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopathy, Ventricular... OMIM:300967
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Short neck, Congestive heart fail... OMIM:105650
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenomegaly, Jaundic... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... ORPHA:210122
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... OMIM:618506
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pol... OMIM:616777
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... OMIM:617713
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Proteus Syndrome
Splenomegaly, Multiple lipomas, Lipoma, Open mouth, Venous malformation OMIM:176920
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Short neck, Cleft palate, Lo... OMIM:615583
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... OMIM:620184
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, S... ORPHA:124
Microphthalmia, Syndromic 2
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... OMIM:300166
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Fetal ascites, Ascending aorta hypoplasia, Deep philtrum, Flexion contracture, K... OMIM:619503
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Orofacial... ORPHA:1519
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Cleft palate, Keloids, Short philtrum, Tricuspid valve... ORPHA:96129
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Short philtrum, Camptodact... OMIM:301039
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Cleft upper lip, Abnormality ... ORPHA:96167
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infections, Ventricular septal d... OMIM:618950
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Secundum atrial septal ... OMIM:249420
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Malabsorption, Venous insufficiency, Vascular dilat... ORPHA:565
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... ORPHA:199302
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Cardiomegaly, Deep philtrum, Hypertension, Pulmonary arterial hypertension, Vascular ... OMIM:613320
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... OMIM:618651
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, Short philtrum, Hernia, Tetralogy of Fallot ORPHA:3306
Tetrasomy 9P
Myositis, Dental crowding, Short neck, Biliary atresia, Downturned corners of mouth, High palate,... ORPHA:3310
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... ORPHA:324410
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Redundant nec... ORPHA:1655
Loeys-Dietz Syndrome 4
Inguinal hernia, Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... OMIM:614816
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... OMIM:614262
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Short n... OMIM:616894
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Vascular Ehlers-Danlos Syndrome
Redundant skin, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Micro... ORPHA:286
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno... ORPHA:624
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial... OMIM:618142
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Burn-Mckeown Syndrome
Inguinal hernia, Ventricular septal defect, Cleft upper lip, Cleft palate, Thin vermilion border,... OMIM:608572
Meige Disease
Predominantly lower limb lymphedema, Lymphedema, Absence of lymph node germinal center, Facial ed... ORPHA:90186
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... ORPHA:2345
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Progressive alveolar ridge hypertropy, Hepatomegaly, Gingival overgrowth, Umbilical... OMIM:252500
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Intestinal malrotation, Polyhydramnios, Abnormal lung lobation, Cleft... ORPHA:2166
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Protein... OMIM:619991
Luo-Schoch-Yamamoto Syndrome
Tricuspid regurgitation, Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion bo... OMIM:619460
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic ... OMIM:614815
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Redundant skin, Congestive hear... OMIM:123700
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Camptodact... OMIM:607015
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... ORPHA:2712
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Everted lower lip vermilion, Long philtrum,... ORPHA:75389
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ... OMIM:615279
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Deep philtrum, Gingival... OMIM:618143
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, J... OMIM:243150
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Thyroid Hemiagenesis
Macroglossia, Jaundice, Umbilical hernia ORPHA:95719
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coa... ORPHA:96147
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Thin skin, Hernia ORPHA:75497
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mo... ORPHA:398156
Fanconi Anemia
Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of ... ORPHA:84
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort... OMIM:620025
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Short neck, Downturned corners of mouth, Short philtrum ORPHA:93267
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Pa... OMIM:300963
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, High, narrow palate, Umbilical hernia, Downturned corners of mouth OMIM:273390
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... ORPHA:536545
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Redundant neck skin, Polyhydramnios, Short neck, Deep philtrum, Flexi... ORPHA:96334
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, High, narrow pa... ORPHA:373
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Wi... OMIM:136760
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myocardial contractility, Hypov... ORPHA:158687
Hunter-Macdonald Syndrome
Aortic regurgitation, Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Long neck... OMIM:611962
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Thick vermilion border, High palate, Pulmona... OMIM:620113
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenom... ORPHA:231214
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, A... OMIM:145420
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Abnormal palate morphology, Tetralogy of Fallot, Anal atresia ORPHA:1381
Triploidy
Omphalocele, Hepatomegaly, Intestinal malrotation, Polyhydramnios, Short neck, Abnormality of the... ORPHA:3376
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft palate, Cleft upper lip OMIM:214300
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... ORPHA:84064
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great art... OMIM:616789
Leopard Syndrome 3
Short neck, Dry skin, Abnormal aortic valve morphology, Webbed neck, Abnormal mitral valve morpho... OMIM:613707
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Sudden cardiac death, C... OMIM:201475
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arte... OMIM:121050
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnorma... ORPHA:33276
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septa... ORPHA:228399
Short-Rib Thoracic Dysplasia 12
Edema, Short neck, Polyhydramnios, Lobulated tongue, Neonatal death, Patent foramen ovale, Hepato... OMIM:269860
Filippi Syndrome
Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Intrau... OMIM:272440
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... ORPHA:261190
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Inguinal hernia, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contract... OMIM:255800
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... OMIM:180849
Chromosome 9P Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Short neck, Hi... OMIM:158170
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... OMIM:252920
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defect, High, narrow palate... ORPHA:435638
Classical Ehlers-Danlos Syndrome
Incisional hernia, Rectal prolapse, Ecchymosis, Hiatus hernia, Cigarette-paper scars, Abnormal he... ORPHA:287
Peters Plus Syndrome
Polyhydramnios, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely ... ORPHA:709
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly OMIM:618786
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Spasticity of facial muscles, Pallor OMIM:606353
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... ORPHA:2184
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Co... ORPHA:275766
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Dental malocclusion, Narrow palate, Mitral valve prolapse, High palate, Minimal ... OMIM:182212
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, High palate, Bradycardia, Third degree atrioventric... ORPHA:40366
Trisomy 1Q
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... ORPHA:261344
Arterial Tortuosity Syndrome
Redundant skin, Myocardial infarction, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, ... ORPHA:3342
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Car... OMIM:253200
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Cleft palat... ORPHA:2008
Mosaic Trisomy 9
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... ORPHA:99776
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Redundant neck skin, Exaggerated cupid's bow, Diastasis recti, Poly... ORPHA:254528
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... ORPHA:42
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Ventricular septal defect, Intestinal malrotation, Congen... OMIM:222448
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Lower limb muscle... ORPHA:365
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... ORPHA:97214
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Absent pulmonary artery, Cl... OMIM:600460
Warsaw Breakage Syndrome
Ventricular septal defect, Wide mouth, High palate, Intrauterine growth retardation, Tetralogy of... OMIM:613398
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short neck, Pyloric stenosis, Downturned corners of mouth, Thin ... ORPHA:1001
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cutis laxa, Distal amyotrophy, Thin skin, Narrow mouth, Umbilical hernia, Intrau... OMIM:219150
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splen... ORPHA:465508
Gm1 Gangliosidosis
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Camptodactyly of fi... ORPHA:354
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Optic Atrophy 1
Pallor OMIM:165500
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Tracheoesophageal fistula... ORPHA:1780
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,... ORPHA:20
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
King-Denborough Syndrome
Ventricular septal defect, Short neck, Centrally nucleated skeletal muscle fibers, Deep philtrum,... OMIM:619542
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Atrial septal defect, Supernumerary tooth, Talon cusp, Pa... ORPHA:353281
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Elevated circulating a... ORPHA:308552
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Polyhydramnios, Intrahepatic chol... OMIM:606812
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Dextrotransposition of... OMIM:618619
Duodenal Atresia
Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter... ORPHA:1203
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Atrial septal defect, He... OMIM:312870
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency, Dental crowding, Vascular dilatation, Atypical scarring of skin, Varicose ve... OMIM:618343
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... ORPHA:94080
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, High palate OMIM:609654
Scarf Syndrome
Inguinal hernia, Diastasis recti, Short neck, Hepatocellular adenoma, Webbed neck, Cutis laxa, Lo... ORPHA:3134
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... ORPHA:3071
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Multiple Pterygium Syndrome, X-Linked
Edema, Polyhydramnios, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Hypoplasti... OMIM:312150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Ca... OMIM:245600
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature arteriosclerosis, Abnor... ORPHA:79474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Thin... ORPHA:743
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary val... ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Galloway-Mowat Syndrome 7
Ventricular septal defect, Edema, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, S... OMIM:618348
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Increased nuchal translucency, Wide mouth, Intrauterine growth retarda... OMIM:617635
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... OMIM:220500
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Patent ductus arteriosus, High palate, Mitral valve prolapse OMIM:104350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, High palate, Lower limb hypertonia, Dextrotransposition of the great a... OMIM:619995
Orofaciodigital Syndrome V
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... OMIM:174300
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:95716
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Recurrent respiratory infections, Tented upper lip vermilion, Facial hy... OMIM:616579
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
8Q24.3 Microdeletion Syndrome
Branchial cyst, Short neck, Abnormal lung lobation, Cleft maxillary alveolar ridge, Atrioventricu... ORPHA:508488
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... OMIM:615582
Vascular Malformation, Primary Intraosseous
Diastasis recti, Ectopic tooth eruption, Umbilical hernia, Gingival bleeding OMIM:606893
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Decreased muscle ... ORPHA:2834
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... ORPHA:2241
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, High palate, Hypoplasia of the thymus, Hepatomegaly, P... OMIM:612541
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Abnormal oral mucosa morphology, Splenomegaly, Skin ... ORPHA:507
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Purpura ORPHA:745
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Var... ORPHA:33001
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts OMIM:263630
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Carpenter Syndrome
Umbilical hernia, Patent ductus arteriosus, Polysplenia ORPHA:65759
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... ORPHA:2328
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Redundant skin, Gingival o... OMIM:225410
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Polyhydramnios, Protruding tongue, Abnormal heart morp... OMIM:617062
Pseudo-Torch Syndrome 3
Lymphadenitis, Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft lip, Tetralogy of Fallot, Short neck OMIM:617926
Lowry-Maclean Syndrome
Inguinal hernia, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow... ORPHA:2409
Gapo Syndrome
Delayed eruption of teeth, Palpebral edema, Abnormal cerebral vascular morphology, Everted lower ... ORPHA:2067
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Short neck, Recurrent upper respiratory tract infections, High p... ORPHA:284180
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Thick... OMIM:618027
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Aspiratio... OMIM:602535
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular ao... OMIM:217085
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Flexion contracture, Erythema, Mild intrauterine growth retardation, Abnormal ca... OMIM:308050
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... OMIM:618067
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Thin upper lip vermilion, Inguinal hernia, Dilation of Virchow-Robin spaces, Dental crowding, Ven... OMIM:300998
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Pursed lips, Inguinal hernia, Hip contracture, Short neck, Elbow flexion contracture, Knee flexio... OMIM:616266
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Cellulitis, Abnorma... ORPHA:79452
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Ventricular septal defect, Smooth philtrum OMIM:602501
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete at... OMIM:264480
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Recurrent sinopulmonary infections, Malabsorption, Abnormality of ... ORPHA:581
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus art... OMIM:102500
Char Syndrome
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... ORPHA:46627
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly... OMIM:619980
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, High pala... ORPHA:79330
Mosaic Trisomy 16
Single coronary artery origin, Ventricular septal defect, Large placenta, Patent ductus arteriosu... ORPHA:1708
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... OMIM:618870
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa, Tooth agenesis, Eve... ORPHA:2963
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Pulmonary cyst, Enlarged kidney OMIM:618272
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Short neck, Esophageal atresia, Patent ductus arteriosus, Abnormal lun... OMIM:300514
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Atrial septal defect, Patent... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Atrial septal defect, Patent... ORPHA:353277
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Eosinophilia, Pallor ORPHA:517
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Dry skin ORPHA:226313
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Edema, Congestive heart failure, Cleft palate, Long philtrum, Umbilical hernia ORPHA:2505
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... OMIM:244300
Oculodentodigital Dysplasia
Median cleft lip, Ventricular septal defect, Abnormal dental enamel morphology, Premature loss of... ORPHA:2710
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced ... OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Deep philtrum, Flexion cont... OMIM:309520
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia, Dry skin OMIM:274400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Fu... ORPHA:453499
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Exaggerated cupid's bow, Bicuspid aortic valve, Wide mouth, Macroglossia, High palate, Umbilical ... OMIM:614501
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Thin upper lip vermilion, Branchial fistula, Inguinal hernia, Ventricular s... ORPHA:261330
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... OMIM:105210
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Reduced number ... ORPHA:52
Degcags Syndrome
Polyhydramnios, High palate, Pallor, Atrial septal defect, Diaphragmatic eventration, Patent fora... OMIM:619488
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema ORPHA:75508
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Wrinkly Skin Syndrome
Delayed eruption of teeth, Inguinal hernia, Scapular winging, Redundant skin, Hypoplasia of the m... OMIM:278250
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Polyhydramnios, N... OMIM:222470
Beckwith-Wiedemann Syndrome
Redundant skin, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Leiomyosarcoma, He... ORPHA:116
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Ventricular septal defect, Heart murmur, Abnormal vena cava morphology, Intraute... ORPHA:166035
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... OMIM:613680
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:269700
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Nephrotic Syndrome, Type 11
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... OMIM:616730
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Edema, Flexion contracture, Cleft palate, Amyoplasia, Hypoplastic heart, Pulmonar... OMIM:253290
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibr... OMIM:615630
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Omodysplasia 1
Ventricular septal defect, Short neck, Pulmonary artery stenosis, Long philtrum, Atrial septal de... OMIM:258315
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios ORPHA:2256
Nicolaides-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infections, Sho... OMIM:601358
Carpenter Syndrome 2
Diaphragmatic eventration, Tricuspid regurgitation, Dextrocardia, Short neck, Carious teeth, High... OMIM:614976
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... OMIM:619909
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Tricuspid regurgitation, Scarring, ... OMIM:601776
C Syndrome
Omphalocele, Hepatomegaly, Ventricular septal defect, Accessory oral frenulum, Patent ductus arte... OMIM:211750
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature,... ORPHA:1101
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith... OMIM:266200
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... ORPHA:1054
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, Tongue nodules, Glossoptosis, High palate... OMIM:311900
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Thick lower lip vermi... OMIM:230000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Prolonged QT interv... ORPHA:26793
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Kleefstra Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera... ORPHA:261494
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... OMIM:616638
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Recur... ORPHA:33364
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu... OMIM:610443
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Atrial septal defect, Redundant neck skin, Short lingual frenulum, Vent... OMIM:617360
Leber Congenital Amaurosis 14
Pallor OMIM:613341
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Short neck, Cleft palate, Mitral regurgitation, ... ORPHA:254346
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate ORPHA:52055
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Stroke, Cho... OMIM:603903
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholangitis, Edema, Short neck, Widely spaced teeth, High palate, Hepatic fibrosis, Microdontia, ... OMIM:266920
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:608594
Floating-Harbor Syndrome
Thin upper lip vermilion, Atrial septal defect, Inguinal hernia, Short neck, Celiac disease, Cari... OMIM:136140
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... OMIM:617450
Alg9-Cdg
Villous atrophy, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatatio... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Narrow mouth, Abnormal lung lobation, Coarctatio... OMIM:614114
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Aplasia/Hypoplasia of the abdomina... ORPHA:2462
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Short neck, Cleft palate, Stillbirth, Umbilical hernia OMIM:269250
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Stroke, Splenic cyst, Umbilical hernia... OMIM:618188
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Downturne... ORPHA:2131
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor, Bone marrow hypocellularity ORPHA:75564
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Short neck, Thick lower l... ORPHA:870
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, High, narrow palate, Umbilical hernia ORPHA:2181
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation OMIM:616307
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, High-output congestive heart fail... ORPHA:231222
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Bile duct proli... OMIM:611134
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, ... ORPHA:464738
X Small Rings
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Aortic ro... ORPHA:96201
Woods Syndrome
Thin vermilion border, Ventricular septal defect OMIM:615236
Pallister-Hall Syndrome
Natal tooth, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Abnormal lung ... OMIM:146510
Gapo Syndrome
Hepatomegaly, Prominent scalp veins, Redundant skin, Facial palsy, Retinal arteriolar tortuosity,... OMIM:230740
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Severe periodontitis, Palpebral edema, Scarring, Protruding tongue, Deep philtrum, ... ORPHA:99843
Aase-Smith Syndrome I
Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate OMIM:147800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Dental crowding, Ventricular septal defect, Patent du... OMIM:617061
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Deep philtrum, Cleft... ORPHA:404440
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Telangiectasia, Abnormal... ORPHA:284227
Osteogenesis Imperfecta
Abnormality of dental color, Flexion contracture, Abnormal dental enamel morphology, Umbilical he... ORPHA:666
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Ventricular septal defect, Lipodys... OMIM:270450
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Abn... ORPHA:349
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Microdontia, P... OMIM:194050
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Pallor, Ecc... ORPHA:824
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Enterocolitis, Decreased liver function... ORPHA:90051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper... OMIM:164210
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... ORPHA:51608
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosity, Emphy... OMIM:614437
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, High, narrow palate, Elbow flexion contracture, Knee flexion contractur... OMIM:613776
Toriello-Carey Syndrome
Aganglionic megacolon, Short neck, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, ... ORPHA:3338
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Meningocele, Cleft palate, ... OMIM:614424
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insuffi... ORPHA:285
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Tracheoesophageal fi... ORPHA:268249
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Ventricular septal defect, Short neck, Flexion contracture, High palate... OMIM:617452
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Recurrent pneumonia, Clef... OMIM:616449
Trisomy 20P
Smooth philtrum, Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the denti... ORPHA:261318
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Polyhydramnios, Abnormality of the dentition, T... ORPHA:79500
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic ... OMIM:619123
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect, Narrow mouth OMIM:245552
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Hypertensive crisis, Pneumonia, Edema, Intestinal perforation, Myocarditis, Re... ORPHA:544482
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph... OMIM:612530
Intellectual Developmental Disorder, Autosomal Recessive 71
Prune belly, Ventricular septal defect, Increased overbite OMIM:618504
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia, Short neck, Thin vermilion border, Webbed neck, Long... ORPHA:85194
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate OMIM:243440
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Cardiac arrest, Polyhydramnios, Short neck, Flexion contracture, Elbow flexion c... OMIM:618947
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Wide mouth, Thin vermilion border, T... ORPHA:217346
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Short neck, Dental malocclusion, Wide mouth, Thick ver... OMIM:610733
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... ORPHA:167635
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Atrial septal defect... OMIM:135900
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula OMIM:619083
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Short neck, Dental malocclusi... ORPHA:444072
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Patent ductus arteri... ORPHA:457193
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... OMIM:613404
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Patent ductu... OMIM:106260
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short neck, Patent ductus arteriosus, Recurrent pneumonia, High palate... OMIM:300472
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Inguinal hernia, Abnormal cardiac ventricular function, Red... ORPHA:90349
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Deep philtrum, Everted lowe... OMIM:613884
Kury-Isidor Syndrome
Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Widely spaced tee... OMIM:619762
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho... ORPHA:2496
Weaver Syndrome
Inguinal hernia, Diastasis recti, Patent ductus arteriosus, Cutis laxa, Long philtrum, Umbilical ... OMIM:277590
19P13.3 Microduplication Syndrome
Ventricular septal defect, Cleft palate, Pulmonary arterial hypertension, Thick vermilion border,... ORPHA:447980
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Tooth agenesis,... OMIM:605676
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Cleft ... OMIM:605039
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Thymic Carcinoma
Mediastinal lymphadenopathy, Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Dental crowding, Spontaneou... ORPHA:558
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... OMIM:614261
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Short neck, Anteriorly placed anus,... OMIM:261540
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... OMIM:619268
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Ventricular septal defec... OMIM:615673
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... ORPHA:2519
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture, Short neck, High pal... ORPHA:505237
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Spina bifida occulta, Bifid u... OMIM:300373
Scarf Syndrome
Inguinal hernia, Diastasis recti, Short neck, Cutis laxa, Webbed neck, Umbilical hernia, Enamel h... OMIM:312830
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, High palate, Pallor OMIM:600462
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Petechiae ORPHA:1959
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus, Umbilical hernia, Oligodontia, Abnormality of the dentition ORPHA:2095
Jacobsen Syndrome
Smooth philtrum, Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, In... ORPHA:2308
Cranioectodermal Dysplasia 2
Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Fused teeth, High palate, Widely spaced... OMIM:613610
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Card... ORPHA:77301
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Polyhydramnios, Congenital diaphragmatic hernia, Abnormalit... ORPHA:887
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Flexion contracture, Submucous cleft hard palate, High palate, Tetralogy of Fallot OMIM:222765
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Palpebral edema, Thin lower lip vermilion, Arteria lusoria, B lymphocyto... ORPHA:221139
Chime Syndrome
Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar... ORPHA:3474
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Short neck, High, narrow palate, Abnormality of dental e... ORPHA:96092
Kniest Dysplasia
Hip contracture, Inguinal hernia, Short neck, Cleft palate, Umbilical hernia OMIM:156550
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus... ORPHA:1790
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia ORPHA:2196
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... OMIM:613001
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter... OMIM:100300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Dry skin, Prolonged neonatal jaundice ORPHA:95715
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl... OMIM:610199
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduced number of intrahepa... ORPHA:79284
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... ORPHA:60015
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth,... OMIM:130050
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Pulmonary hypoplasia, Long philtrum OMIM:617895
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Polyhydramnios, Short neck, High palate, Wrist flexion contracture, Purs... ORPHA:800
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal tr... ORPHA:1052
Breath-Holding Spells
Pallor OMIM:607578
Chops Syndrome
Ventricular septal defect, High, narrow palate, Splenomegaly, Patent ductus arteriosus, Anomalous... OMIM:616368
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malrotation, Polyhydr... ORPHA:436252
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormality of the gallbladder, Abnormal ... ORPHA:2075
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... OMIM:609942
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Ectopic... ORPHA:2473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f... OMIM:253800
Dermatomyositis
Abnormal eosinophil morphology, Edema, Myocardial infarction, Periorbital edema, Inflammatory myo... ORPHA:221
Pallister-Hall Syndrome
Natal tooth, Inguinal hernia, Ventricular septal defect, Accessory oral frenulum, Cleft lip, Pate... ORPHA:672
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hepatic calcification, Cardiomyopat... ORPHA:228308
Livedoid Vasculopathy
Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Pedal edema, Ski... ORPHA:542643
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental morphology, Abnormal dental... ORPHA:1458
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... OMIM:610759
3Mc Syndrome 1
Omphalocele, Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Diastasis r... OMIM:257920
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow palate, Wide m... OMIM:619312
Mgat2-Cdg
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Hydrops fetalis, Abnormal h... ORPHA:79329
Neu-Laxova Syndrome 1
Polyhydramnios, Swollen lip, Short neck, Neonatal death, Patent foramen ovale, Spina bifida, Clef... OMIM:256520
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Elbow contracture, Umbilical hernia, Nemaline bodies, Intrauterine growth retard... OMIM:620275
Brachydactyly, Type B1
Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular septal defect, Ca... OMIM:113000
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop... ORPHA:464
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Excessive wrinkled skin, Arteriovenous malformation, Congestive heart failure ORPHA:137608
Noonan Syndrome 1
Ventricular septal defect, Short neck, Lymphedema, High, narrow palate, Patent ductus arteriosus,... OMIM:163950
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Encephaloc... ORPHA:2162
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Short neck, Abnormality of the... ORPHA:798
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telangiectasia of the skin, Abnormality of the dentition, Thick lower lip vermilion, Dental maloc... ORPHA:85321
Yunis-Varon Syndrome
Redundant neck skin, Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad se... ORPHA:3472
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Diastema, Carious te... OMIM:244450
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft... OMIM:117650
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Recurrent aspira... ORPHA:79243
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Cardiomegaly, ... ORPHA:51
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... ORPHA:276621
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the pancreas, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis,... ORPHA:1555
Genetic Transient Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Edema, Prolonged neonatal jaundice ORPHA:226316
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:90673
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Perianal erythema, Recurrent upper respirato... OMIM:308205
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, C... OMIM:610253
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Short neck, Elbow... OMIM:178110
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Atrial septal defect, Ventricular septal def... ORPHA:1465
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Hi... ORPHA:2463
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,... OMIM:301022
Fanconi Anemia, Complementation Group D2
Anemic pallor, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal ... OMIM:227646
Tolchin-Le Caignec Syndrome
Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, Narrow mouth, Umb... OMIM:618971
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Bicuspid aortic valve, Ventricular sep... ORPHA:457279
Restrictive Dermopathy
Multiple joint contractures, Polyhydramnios, Scaling skin, Atrial septal defect, Patent ductus ar... ORPHA:1662
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... ORPHA:263455
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor, Lymphadenopathy ORPHA:56425
H Syndrome
Psoriasiform dermatitis, Lipodystrophy, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Ab... ORPHA:168569
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Accessory spleen, Malformation o... OMIM:249000
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Dental crowding, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent du... OMIM:618268
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Carious teeth, Narrow mouth, Thin vermilion border, Apla... ORPHA:96097
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Flexion contracture, Bone marrow hypocellularity, Intra... OMIM:227645
Bohring-Opitz Syndrome
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Cleft lip, Bilateral wrist flex... ORPHA:97297
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Dry skin ORPHA:90674
Microform Holoprosencephaly
Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill... ORPHA:280200
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... OMIM:606232
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricula... OMIM:608670
Dent Disease 2
Umbilical hernia, Elevated circulating alanine aminotransferase concentration, Elevated circulati... OMIM:300555
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Thin vermilion border, Long philtrum, Umbilical hernia, Dentinogenesis i... OMIM:614856
Roifman-Chitayat Syndrome
Umbilical hernia, Thin lower lip vermilion, Pneumonia, Short neck OMIM:613328
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Sotos Syndrome
Atrial septal defect, Ventricular septal defect, High, narrow palate, Muscular ventricular septal... OMIM:117550
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,... ORPHA:251038
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Cornea... OMIM:614653
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Dermal translucency, Inguinal hernia, Redundant neck skin, Redundant skin, ... ORPHA:90348
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Incisional hernia, Flexion contrac... OMIM:154700
Hereditary Folate Malabsorption
Recurrent respiratory infections, Skeletal muscle atrophy, Eosinophilia, Cheilitis, Pallor, Gloss... ORPHA:90045
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Var... OMIM:617107
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Malrotation of sma... ORPHA:264450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:352665
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F... OMIM:619306
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect, Thin vermilion border, Short philtrum ORPHA:3255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Cleft palate, Skeletal muscle hypertrophy, High palate, Intrauterine g... OMIM:617164
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un... OMIM:619103
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... OMIM:613309
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Short p... ORPHA:261537
Myhre Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short neck, Pericardial effusion, Cleft lip,... OMIM:139210
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T... OMIM:301030
Fryns Syndrome
Tented upper lip vermilion, Ectopic pancreatic tissue, Polyhydramnios, Short neck, Atrial septal ... OMIM:229850
Refractory Anemia With Excess Blasts
Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations, Bone marrow hypocellularity ORPHA:86839
Pallister-Killian Syndrome
Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Short neck, Congenital d... OMIM:601803
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Abnormal dental enamel mo... ORPHA:534
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Cardiomeg... OMIM:182250
Dravet Syndrome
Pallor ORPHA:33069
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent... OMIM:614961
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor ORPHA:90033
Branchioskeletogenital Syndrome
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Short neck, Submucous cleft... ORPHA:1299
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hepatic fibrosis, Hamartoma of tongue, Cleft upper lip, Supernumer... OMIM:311200
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular s... OMIM:263520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Short p... ORPHA:261552
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Oligohy... OMIM:619229
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Distal amyotrophy, High palate, Pallor, Increased variability in muscle fiber d... OMIM:617675
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia OMIM:620306
Sotos Syndrome
Hip contracture, Inguinal hernia, Aganglionic megacolon, Ventricular septal defect, Ankle flexion... ORPHA:821
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula ORPHA:77298
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, High palate, Bone marrow hypocellularity OMIM:614520
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ... ORPHA:289
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Wide mouth, Mitral regurgitation, Thick vermil... ORPHA:261250
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... OMIM:619418
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ven... OMIM:614866
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Icf Syndrome
Recurrent respiratory infections, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Hypoplastic aortic arch, Facial hypotonia, Inguinal hernia ORPHA:457284
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Abnormality of the spleen, Splenome... ORPHA:2072
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Pr... OMIM:214100
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... ORPHA:261236
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Spina bifida, Short neck, Cleft palate, Stillbirth, Narrow mouth,... OMIM:304120
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... OMIM:557000
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Ventricular septal de... OMIM:613458
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Eosinophilia, Lymphadenitis, ... ORPHA:331206
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Con... ORPHA:96121
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:1934
Amme Complex
Thin upper lip vermilion, Inguinal hernia, Diastasis recti, Umbilical hernia, Intrauterine growth... OMIM:300194
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Recurrent upper respiratory tract infections, Ventricular septa... ORPHA:3078
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Narrow mouth, Patent ductus arteriosus, Macroglossia,... OMIM:613457
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Umbilical hernia, Inguinal hernia, Short neck ORPHA:3218
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... ORPHA:29072
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Enlarged ovaries, Dental crowding, Ven... ORPHA:769
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... ORPHA:2729
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodac... ORPHA:261337
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Truncus arteriosus, Ventri... ORPHA:508498
Familial Visceral Myopathy
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Ventricular septal defect, Abnormality of t... ORPHA:251028
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Tetralogy of ... OMIM:118450
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ... OMIM:274000
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Mitral regurgitation, Aortic ... OMIM:277600
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Ventricular septal defect, Diastasis... ORPHA:2369
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal lung lobation, Atrial septa... ORPHA:818
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Short nec... OMIM:268310
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Dilatation ... ORPHA:459070
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Eosinophilia, Peptic ulcer, Splenomegaly, Lymphadenopathy, Syncope, Pa... ORPHA:98849
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft lip, Cleft palate, Hepatosplenomegaly, Umbilical hernia, Everted lower lip ve... OMIM:301066
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... ORPHA:209905
Autosomal Dominant Robinow Syndrome
Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Short neck... ORPHA:3107
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Ventricular septal defect, Protruding tongue, Diastema, Short neck, Gingival overgro... OMIM:212066
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect OMIM:616901
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, S... OMIM:619575
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Polyhydramnios, Splenomegaly, Supernumer... OMIM:617088
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Short neck, Hig... OMIM:607721
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Malabsorption, Pyloric stenosis, Jaundice, Abnormality o... ORPHA:912
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Abnormality of the dentition, Short neck, Cleft upper lip, Cleft... OMIM:304110
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... ORPHA:3047
Hereditary Hyperekplexia
Umbilical hernia, Hernia, Esophagitis, Hiatus hernia ORPHA:3197
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Facial hypotonia, Pneumonia, Short neck, Hepatosplenomegaly, Macroglossia, ... ORPHA:309282
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema OMIM:613089
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... OMIM:180700
Teebi-Shaltout Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Camptodact... OMIM:272950
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
9P13 Microdeletion Syndrome
Umbilical hernia, Dry skin, High palate ORPHA:324313
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Widely spaced teeth, High palate, Atrial septal defect, Microd... OMIM:612474
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis ORPHA:348
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, At... OMIM:301044
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate, Atrial septal defect OMIM:610536
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Splenomegaly, Venous insufficiency, Bronchogenic cyst, Subcutaneou... ORPHA:2969
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Pallor... ORPHA:91347
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short neck, Rhabdomyosarcoma, Pyl... OMIM:218040
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, ... OMIM:122470
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1782
Larsen Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Intra... OMIM:150250
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Pallor ORPHA:209981
Stuve-Wiedemann Syndrome 1
Pursed lips, Short neck, Carious teeth, Pulmonary arterial medial hypertrophy, Elbow flexion cont... OMIM:601559
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Short neck, Cleft ... OMIM:617925
Ablepharon Macrostomia Syndrome
Omphalocele, Camptodactyly of finger, Redundant skin, Wide mouth, Excessive wrinkled skin, Thin v... ORPHA:920
Whim Syndrome
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... ORPHA:51636
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Polyhydramnios OMIM:615503
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... ORPHA:881
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Deep philtrum, Hypertension, Pulmonary artery hy... OMIM:245150
Clapo Syndrome
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema ORPHA:168984
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial a... OMIM:256040
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, Ventricular septal defect, Short neck, Recurrent pneumonia, High palate... OMIM:620330
Renal Agenesis
Ventricular septal defect, Hypertension, Pulmonary hypoplasia, Anal atresia, Oligohydramnios ORPHA:411709
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... OMIM:614947
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphology, Cervical ... ORPHA:653
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short neck, Deep philtrum, C... ORPHA:251014
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic... OMIM:618278
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Oligodontia, Bilateral camptodactyly, Smooth philtrum OMIM:619234
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent... ORPHA:193
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Ab... OMIM:617140
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... ORPHA:329971
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C... OMIM:130650
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Polyhydramnios, Rectovaginal f... OMIM:600373
Letterer-Siwe Disease
Stomatitis, Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Striae distensae, Dental crowding, Hiatus hernia, Vertebral artery to... OMIM:619329
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated... OMIM:619525
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor, Gingival bleeding, Melena ORPHA:98870
Loeys-Dietz Syndrome
Striae distensae, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus art... ORPHA:60030
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Compl... OMIM:236680
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia, Smooth philtrum ORPHA:1778
Unilateral Polymicrogyria
Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro... ORPHA:500095
Duane-Radial Ray Syndrome
Anal stenosis, Upper limb muscle hypoplasia, Ventricular septal defect, Aganglionic megacolon, Fa... OMIM:607323
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Thin upper lip vermilion, Abnormal cardiac ventricular function, Tricuspid regurgitation, Dental ... ORPHA:466791
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... ORPHA:100991
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cl... OMIM:617063
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Aplasia of the pectoralis m... ORPHA:3138
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Constricting Bands, Congenital
Omphalocele, Encephalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Gastroschisis,... OMIM:217100
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Recto... OMIM:107480
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Tented upper lip vermilion, Ventricular septal defect, Diastasis recti, ... ORPHA:488632
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... ORPHA:79093
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo... OMIM:243800
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Short neck OMIM:620073
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Paten... ORPHA:464311
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... ORPHA:1071
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa... ORPHA:2461
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Short neck, Oligodontia, ... OMIM:609460
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft upper li... OMIM:154400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Esophagitis, Intrauterine growth retardation ORPHA:79351
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Short neck, Muscular ve... OMIM:210710
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Arboleda-Tham Syndrome
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... OMIM:616268
Smith-Lemli-Opitz Syndrome
Dental crowding, Abnormal lung lobation, Atrial septal defect, Hepatic steatosis, Bifid uvula, He... OMIM:270400
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He... ORPHA:14
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
3Mc Syndrome
Diastasis recti, Orofacial cleft, Downturned corners of mouth, Umbilical hernia, Spina bifida occ... ORPHA:293843
Incontinentia Pigmenti
Delayed eruption of teeth, Eosinophilia, Scarring, Conical tooth, Erythema, Retinal hemorrhage, O... OMIM:308300
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Short neck OMIM:610832
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Congestive heart failure, Patent ductus arte... ORPHA:444077
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Pyloric stenosis,... ORPHA:1606
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Furrowed tongue, High palate, Bro... OMIM:616975
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Dental malocclusion, Mitral valve prolapse, Taurodontia, M... OMIM:616202
Neuroocular Syndrome
Scapular winging, Patent foramen ovale, Short uvula, Submucous cleft hard palate, Downturned corn... OMIM:619539
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Situs inversus totalis, Cleft p... OMIM:309500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Spinal dysraphism, Webbed neck, Lipoma, Venous malformation OMIM:612918
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Hyperekplexia 1
Umbilical hernia, Inguinal hernia OMIM:149400
Mosaic Trisomy 20
Ventricular septal defect, Cleft lip, Long neck, Dysplastic tricuspid valve, Cleft palate, Abnorm... ORPHA:1724
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Imerslund-Gräsbeck Syndrome
Pallor, Tachycardia, Glossitis, Angular cheilitis ORPHA:35858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Abnormality of the dentition OMIM:617952
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pulmonary artery sli... OMIM:235730
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short neck, Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:226307
Femoral-Facial Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft palate, Pulmonic sten... OMIM:134780
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short neck, Supernumerar... ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Pyloric stenosis, P... ORPHA:464306
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short neck, Pyloric stenosis, Flexio... OMIM:147791
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Cleft palate, Thick vermilion border, Umbilical hernia, Emphysema OMIM:616835
Adnp Syndrome
Thin upper lip vermilion, Inguinal hernia, Thick lower lip vermilion, Recurrent upper respiratory... ORPHA:404448
Non-Functioning Pituitary Adenoma
Increased intraabdominal fat, Pallor, Hypotension ORPHA:91349
Pauci-Immune Glomerulonephritis
Purpura, Oral ulcer, Arteritis, Abnormality of the pulmonary vasculature, Small vessel vasculitis... ORPHA:93126
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Aregenerative Anemia
Pallor, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy... ORPHA:97289
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 53
Wide mouth, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Martin-Probst Syndrome
Thick lower lip vermilion, Dental malocclusion, Telangiectasia, Wide mouth, Umbilical hernia OMIM:300519
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Double inlet left ventricle, Thin vermilion border, High palate, Atrial... OMIM:619869
Focal Dermal Hypoplasia
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Intestinal malrotation, Congenital diaph... OMIM:305600
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdo... ORPHA:358
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Abnormality of the dentition, Ca... ORPHA:93
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Hepatic steatosis, Thick... OMIM:619475
Menke-Hennekam Syndrome 1
Thin upper lip vermilion, Everted upper lip vermilion, Inguinal hernia, Deep philtrum, Flexion co... OMIM:618332
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation... OMIM:143095
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Pallor, Bradycardia, Dry skin ORPHA:91355
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Multiple lipomas,... ORPHA:276280
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Abnormal dental morphology, Bicuspid aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Abnormal dental morphology, Bicuspid aorti... ORPHA:363958
Acromesomelic Dysplasia 4
Umbilical hernia, Third degree atrioventricular block OMIM:619636
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Cohen-Gibson Syndrome
Umbilical hernia, Patent ductus arteriosus, Flexion contracture, Camptodactyly OMIM:617561
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... OMIM:615948
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Thick vermilion border OMIM:250410
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Venous insufficiency, High, narrow pala... ORPHA:198
Fraser Syndrome
Encephalocele, Omphalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... ORPHA:2052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Cleft soft palate, Abnormal pul... ORPHA:268261
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Varicose veins, Torticollis OMIM:314300
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Kabuki Syndrome 1
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M... OMIM:147920
Retinitis Pigmentosa 75
Pallor OMIM:617023
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Liposarcoma
Varicose veins ORPHA:69078
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Prolactinoma
Pallor, Hypotension ORPHA:2965
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia, Dry skin OMIM:218700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Ventricular septal defect, Short neck, Flexion contracture, Cleft palate, ... OMIM:271640
Childhood Absence Epilepsy
Pallor ORPHA:64280
Thyroid Ectopia
Macroglossia, Jaundice, Umbilical hernia ORPHA:95712
Monosomy 22Q13.3
Dental crowding, Palpebral edema, Lymphedema, Dental malocclusion, Umbilical hernia ORPHA:48652
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Polyhydramnios, Cleft upper lip, Short neck, Ankle f... OMIM:268300
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Anomalous orig... ORPHA:438213
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Cleft upper lip, Malrotation ... OMIM:194190
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Penile Agenesis
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Bilate... ORPHA:49
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia, High palate, Smooth philtrum ORPHA:2203
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Microphthalmia With Limb Anomalies
Macrodontia, Cleft upper lip, Venous insufficiency, Cleft palate, Thin vermilion border, High pal... ORPHA:1106
Varicose Veins
Varicose veins OMIM:192200
Yunis-Varon Syndrome
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Premature loss of prima... OMIM:216340
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Peripheral pulmonary vessel aplasia, ... OMIM:273395
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... ORPHA:83454
Proboscis Lateralis
Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa... ORPHA:141099
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Congenital diaphrag... ORPHA:199
Mowat-Wilson Syndrome
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Widely ... ORPHA:2152
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Thick lower lip vermilion, Thick upper lip vermilion, Long philtrum OMIM:619727
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Carious teeth, Patent ductus arteriosus, Downturned corners of mouth, ... OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Everted lower lip vermilion, Pallor, Muscular dystrophy OMIM:253280
Ulnar-Mammary Syndrome
Anal stenosis, Inguinal hernia, Ventricular septal defect, Pyloric stenosis, Elbow flexion contra... OMIM:181450
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Ventricular septal defect, Polyhydramn... OMIM:606170
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Dentinogenesis imperfecta, Hypoplastic pulmonary veins, Long philtrum OMIM:610682
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalveolar fluid... OMIM:233450
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Venous insufficiency, Thin vermilion border 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

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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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