Gene: Kat6a MGI:2442415

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

K(lysine) acetyltransferase 6A

Synonyms:

Zfp220, MOZ, Myst3, 9930021N24Rik

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 Kat6a 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.

Human diseases associated with Kat6a (2 diseases)
Human diseases predicted to be associated with Kat6a (1398 diseases)

The table below shows human diseases associated to Kat6a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome		Patent ductus arteriosus, Ventricular septal defect, Microretrognathia, Atrial septal defect, Int...	ORPHA:457193
Arboleda-Tham Syndrome		Patent ductus arteriosus, Mandibular prognathia, Webbed neck, Ventricular septal defect, Wide mou...	OMIM:616268

The table below shows human diseases predicted to be associated to Kat6a by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra...	OMIM:231060
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly	ORPHA:46532
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum	OMIM:615709
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu...	ORPHA:860
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr...	OMIM:208530
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo...	ORPHA:1209
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Decreased response to growth hormone sti...	OMIM:618223
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Cyanosis, Hepatomegaly, Abd...	OMIM:306955
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre...	OMIM:613751
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ...	OMIM:613854
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,...	OMIM:601186
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm...	OMIM:616749
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Ventricular septal defect, Narrow palate, High palate, Lo...	OMIM:617022
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, High palate, Micrognathia, Atr...	ORPHA:3304
Hypoglossia With Situs Inversus	Asplenia, High palate, Micrognathia, Polysplenia, Hypodontia, Situs inversus totalis, Narrow mout...	OMIM:612776
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Scimitar Syndrome	Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve...	ORPHA:185
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Atrioventricular canal defect, Micrognathia, Butterfly vertebrae, Pulmonary artery dila...	OMIM:265380
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Anemia, Hydrops fetalis, Congestive heart failure, Pallor, Oligohydramnios, Peric...	ORPHA:163596
Immunodeficiency 19	Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo...	OMIM:615617
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu...	OMIM:270100
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Micrognathi...	ORPHA:1727
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Asplenia, Double outlet right ventricle, Unbalanced atrioventricular ca...	OMIM:619657
Truncus Arteriosus	Cyanosis, Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Aplasia/hypoplasia involving...	ORPHA:3384
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, H...	OMIM:615631
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Asplenia, Absent gallbladder, Atrioventricular canal defect, Pulmonary ...	ORPHA:210122
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le...	ORPHA:90064
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm...	ORPHA:216694
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ...	OMIM:614779
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly, Pallor	ORPHA:228312
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells...	OMIM:617241
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Aortic Arch Interruption	Cyanosis, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary windo...	ORPHA:2299
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans...	ORPHA:261243
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F...	OMIM:603554
Heterotaxy, Visceral, 12, Autosomal	Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal...	OMIM:619702
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept...	OMIM:601927
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormality of the neck, Abnormal cardiac septum morphology, Upper limb phocomelia, Abnormal hear...	ORPHA:294975
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Ventricular septal defect, Kyphosis, Micrognathia, Cleft...	OMIM:619123
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Hypertr...	OMIM:615415
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Hepatic bridging fibrosis, L...	OMIM:613759
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect	OMIM:614432
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop...	OMIM:618987
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mosaic Trisomy 9	Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, High palate, Ventricular septal de...	ORPHA:99776
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re...	OMIM:602450
Acute Myelomonocytic Leukemia	Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:1354
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Hypoplasi...	ORPHA:40366
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Short philtrum, Bruising susceptibility, Epistaxis, Stroke...	OMIM:185070
Primary Ciliary Dyskinesia	Asplenia, Double outlet right ventricle, Polysplenia, Atrial situs ambiguous, Chronic sinusitis, ...	ORPHA:244
Feingold Syndrome 1	Patent ductus arteriosus, Asplenia, Short toe, High palate, Ventricular septal defect, Jejunal at...	OMIM:164280
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Situs inversus totalis, Dextrocardia	OMIM:618948
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Deat...	OMIM:617478
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Ventricular hypertrophy, Retrognathia, Cleft upper lip, Ventricular sep...	OMIM:612561
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Vertebral segmentation defect, Duodenal atresia, Aplasia of the thymus	ORPHA:3004
Transaldolase Deficiency	Anemia, Cirrhosis, Telangiectasia, Premature skin wrinkling, Atrial septal defect, Coarctation of...	ORPHA:101028
Sweeney-Cox Syndrome	Patent ductus arteriosus, Asplenia, Patent foramen ovale, High palate, Broad neck, Micrognathia, ...	OMIM:617746
Beta-Thalassemia	Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,...	ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetalis...	OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen...	OMIM:208540
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned co...	ORPHA:1110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Double Outlet Right Ventricle	Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart mur...	ORPHA:3426
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Cleft upper lip, Vertebral hypoplasia, Abnormal cardiac septum morphology, Shor...	OMIM:308050
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long philtrum, Bi...	ORPHA:477817
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo...	OMIM:614034
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae	OMIM:616566
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Interrupted aortic arch, Velophar...	OMIM:192430
Monosomy 22	Retrognathia, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Shor...	ORPHA:96123
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Po...	OMIM:605376
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Intestinal obstruction, Intestinal atresia, Enterocolitis, Ventricular ...	OMIM:243150
Mu-Heavy Chain Disease	Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Congenital Tracheomalacia	Patent ductus arteriosus, Cyanosis, Pulmonary arterial hypertension, Cardiomegaly, Ventricular se...	ORPHA:95430
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
X-Linked Sideroblastic Anemia	Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor	ORPHA:75563
Evans Syndrome	Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Autoimmune th...	ORPHA:1959
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hepatomegaly, Elevated hepatic...	OMIM:615234
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Thymic Aplasia	Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ...	ORPHA:83471
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition ...	ORPHA:1913
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular ...	OMIM:606003
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis	OMIM:601086
Meckel Syndrome 14	Retrognathia, Cyanosis, Hepatic fibrosis, Micrognathia, Microretrognathia, Short neck, Mitral reg...	OMIM:619879
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Beta-Thalassemia Intermedia	Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decreased liver function,...	ORPHA:231222
Diabetic Embryopathy	Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Crypt...	ORPHA:1926
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Anemia, Short 5th finger, Ventricular septal defect...	ORPHA:163979
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Hypertrophic cardiomyopathy, Hepatom...	OMIM:613561
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu...	ORPHA:99050
Primary Myelofibrosis	Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Pancytopenia, Hepatosplenomegaly, Poiki...	ORPHA:824
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis	OMIM:613702
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect	OMIM:212090
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Wide mouth, Macroglossia, Everted lower lip vermilion, Cryptorchidism, Open...	OMIM:616789
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Hypoplastic Left Heart Syndrome 1	Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta	OMIM:241550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Vertebral s...	ORPHA:1166
Catel-Manzke Syndrome	Micrognathia, Bifid uvula, Short femur, Short neck, Cleft palate, Glossoptosis, Cystic hygroma, S...	OMIM:616145
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa...	ORPHA:507
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Catel-Manzke Syndrome	Ventricular septal defect, Micrognathia, Oral synechia, Atrial septal defect, Scoliosis, Malar fl...	ORPHA:1388
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
Heart And Brain Malformation Syndrome	Ventricular septal defect, Thick lower lip vermilion, Interrupted aortic arch, Everted lower lip ...	OMIM:616920
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu...	OMIM:300712
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Intracranial hemorrhage, Pallor, Abnormal neutrophil count, Bone marrow hypocellulari...	ORPHA:3226
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Bifid uvula, Recurren...	OMIM:188400
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla...	OMIM:617616
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Micrognathia, Lymphopenia, A...	ORPHA:2306
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis, Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, He...	ORPHA:99125
Meckel Syndrome, Type 1	Asplenia, Abnormal cardiac septum morphology, Micrognathia, Malformation of the hepatic ductal pl...	OMIM:249000
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Atrial septal defect, Lymphopenia	OMIM:614868
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum...	OMIM:608227
Noonan Syndrome 12	11 pairs of ribs, Decreased response to growth hormone stimulation test, Ventricular septal defec...	OMIM:618624
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Meacham Syndrome	Patent ductus arteriosus, Neonatal death, Death in childhood, Cardiac total anomalous pulmonary v...	OMIM:608978
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Ever...	OMIM:617877
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona...	ORPHA:290
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ...	OMIM:300751
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect...	OMIM:615502
Atrial Septal Defect 4	Patent foramen ovale, Atrial septal defect, Coarctation of aorta	OMIM:611363
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep...	OMIM:615297
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Micrognathia, Jaundice, Intrahepatic biliary dysgenesis, Abnormal heart...	OMIM:214110
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Absent tonsils, Absence of ...	ORPHA:277
Autoimmune Hemolytic Anemia	Hemolytic anemia, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte morphology, Sp...	ORPHA:98375
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Pa...	ORPHA:49827
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, P...	OMIM:604381
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A...	OMIM:614980
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Short 5th metacarpal, Pseudocoarctation of the a...	ORPHA:228190
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Syndromic Diarrhea	Hypothyroidism, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Peripheral pulmonary artery ...	ORPHA:84064
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cryptorchidism, Biventri...	OMIM:618280
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,...	ORPHA:251071
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left...	ORPHA:2248
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto...	ORPHA:98870
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis, Atrial septal defect	OMIM:617408
Ververi-Brady Syndrome	High palate, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth philtrum, ...	OMIM:617982
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Long philtrum,...	OMIM:613177
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn...	ORPHA:3400
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra...	OMIM:619910
Nemaline Myopathy 9	High palate, Ventricular septal defect, Micrognathia, Scoliosis, Cleft palate	OMIM:615731
Mirage Syndrome	Leukopenia, Anemia, Decreased body weight, Decreased testicular size, Adrenal insufficiency, Lymp...	OMIM:617053
Igg4-Related Aortitis	Hypereosinophilia, Ascending tubular aorta aneurysm, Low back pain, Abnormal common carotid arter...	ORPHA:449400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary...	OMIM:618780
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Double outlet right ventricle, Cyanosis, Pulmonary insufficiency, Heart murmu...	ORPHA:2326
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect	OMIM:249670
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Micrognathia, Secundum atrial septal defect, Parathyroid...	OMIM:214800
Meacham Syndrome	Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co...	ORPHA:3097
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Hypertension, Arrhythm...	OMIM:617021
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Thick lower l...	OMIM:179613
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increased mean corpuscular vo...	OMIM:613839
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly	OMIM:611804
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Apert Syndrome	Rhizomelic arm shortening, Dental malocclusion, Mandibular prognathia, Narrow palate, Ventricular...	OMIM:101200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall...	OMIM:300908
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular...	OMIM:220210
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, M...	ORPHA:261120
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent...	OMIM:601457
Cyanosis, Transient Neonatal	Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia	OMIM:613977
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt...	OMIM:619824
Immunodeficiency 9	Ectodermal dysplasia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Death in infancy, ...	OMIM:612782
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Sideroblastic anemia, Stroke, Thiamine-responsive megaloblastic anemia...	OMIM:249270
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Fryns Syndrome	Non-midline cleft lip, Abnormal cardiac septum morphology, Ectopic anus, Micrognathia, Abnormal a...	ORPHA:2059
Spinal Muscular Atrophy, Type I	Tongue fasciculations, Death in childhood, Ventricular septal defect, Atrial septal defect	OMIM:253300
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Pallor, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly	ORPHA:90037
White Forelock With Malformations	Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:277740
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Pulmonary artery stenosis, Double ou...	OMIM:600001
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Elevated hepati...	ORPHA:331206
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Abnormal cardiac septum morphology, Interru...	ORPHA:250989
Feingold Syndrome Type 1	Patent ductus arteriosus, Jejunal atresia, Short middle phalanx of the 5th finger, Esophageal atr...	ORPHA:391641
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly, Hepatomegaly, Pallor	ORPHA:56425
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Volvulus,...	ORPHA:335
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out...	ORPHA:2255
Congenital Pulmonary Lymphangiectasia	Cyanosis, Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failu...	ORPHA:2414
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Enamel hypoplasia, Asplenia, Atrophic gastritis, Hypothyroidism, Decreased c...	OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi...	OMIM:619717
American Trypanosomiasis	Congestive heart failure, Pallor, Edema, Arrhythmia, Hepatomegaly, Periorbital edema, Myocarditis...	ORPHA:3386
Wiskott-Aldrich Syndrome	Sudden cardiac death, Hypoplasia of the thymus, Hematemesis, Thrombocytopenia, Urticaria, Purpura...	ORPHA:906
Ciliary Dyskinesia, Primary, 1	Asplenia, Situs inversus totalis, Absent frontal sinuses, Chronic sinusitis	OMIM:244400
Williams Syndrome	Sudden cardiac death, Peptic ulcer, Hypothyroidism, Aortic arch aneurysm, Colonic diverticula, Pr...	ORPHA:904
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Pulmonary arterial hypertension, Micrognathia, Atrial septal defect, Co...	OMIM:614857
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology	ORPHA:1436
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Abnormality of the pulmonary artery, Atrial septal ...	ORPHA:90308
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morpholog...	ORPHA:3405
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In...	OMIM:618534
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Death in infancy, Jaundice, Hepatomegaly, Glossoptosis	OMIM:614876
22Q11.2 Deletion Syndrome	Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Retinal ...	ORPHA:567
Acrodysplasia Scoliosis	Spina bifida occulta, Vertebral segmentation defect, Scoliosis	ORPHA:2956
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L...	OMIM:619846
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Micrognat...	ORPHA:2516
Pulmonary Arteriovenous Malformation	Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Brain abscess, Bacterial endocar...	ORPHA:2038
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,...	ORPHA:1461
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly	OMIM:611590
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Reduced hemoglobin A, Hepatocellular carcin...	ORPHA:231226
Beta-Thalassemia Major	Skin ulcer, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, High-output...	ORPHA:231214
Cardiac Valvular Dysplasia 1	Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort...	OMIM:212093
Treacher-Collins Syndrome	Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth agenesis, Cleft palate, Glossop...	ORPHA:861
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Decreased testicular size, Hyp...	OMIM:147770
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Vertebral segmenta...	ORPHA:3186
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Pallor, Autoimmune hemolytic anem...	ORPHA:90033
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Pseudoaminopterin Syndrome	Asplenia, Patent foramen ovale, Short 4th metacarpal, High palate, Micrognathia, Microdontia, Sho...	ORPHA:221120
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Truncus arteriosus, Long philtrum, Atrial septal defect, Intestinal ma...	ORPHA:401935
Diamond-Blackfan Anemia 1	Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short neck, Cleft palate, Thrombocytope...	OMIM:105650
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Anter...	OMIM:309801
Phaver Syndrome	Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Coarctation of aorta, Hypoplast...	ORPHA:2876
Developmental And Epileptic Encephalopathy 66	Anemia, Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spa...	OMIM:618067
Perching Syndrome	Cyanosis, High palate, Scoliosis	OMIM:617055
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,...	ORPHA:276556
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Patellar hypoplasia, Ventricular ...	OMIM:619189
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,...	ORPHA:276575
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Acrocyanosis	OMIM:302000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Elevated hepatic transa...	ORPHA:300298
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Pedal edema, Retinal hemorrhage, Abnormal mean corpuscular volume, Palpit...	ORPHA:86839
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Anemia, Rhizomelia, Short ribs, Atrial septal defect, Redundant neck sk...	ORPHA:1842
Mmep Syndrome	Mandibular prognathia, Ventricular septal defect, Median cleft lip, Cryptorchidism, Orofacial cleft	ORPHA:3434
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent...	ORPHA:3092
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter	OMIM:617577
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A...	OMIM:619769
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Irregular vertebral endplates, Ventricular septal defect, S...	OMIM:616651
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis	ORPHA:71277
Adams-Oliver Syndrome 6	Hepatic fibrosis, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Cutis marmora...	OMIM:616589
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft upper lip, Ectopia cordis, Cleft palate, Transposition of the gre...	OMIM:313850
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ...	OMIM:612946
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection	OMIM:613780
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficie...	ORPHA:99931
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells	OMIM:613500
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Short toe, Myeloid leukemia, Mandibular prognathi...	ORPHA:404443
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati...	ORPHA:98849
Retinitis Pigmentosa 27	Macular edema, Pallor	OMIM:613750
Absence Of The Pulmonary Artery	Cyanosis, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnormal...	ORPHA:980
Carpenter Syndrome 1	Patent ductus arteriosus, High palate, Ventricular septal defect, Polysplenia, Atrial septal defe...	OMIM:201000
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i...	OMIM:620067
Waldenström Macroglobulinemia	Pedal edema, Retinal hemorrhage, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, ...	ORPHA:33226
Eisenmenger Syndrome	Cyanosis, Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhyt...	ORPHA:97214
Fetal Minoxidil Syndrome	Micrognathia, Ventricular septal defect, Umbilical hernia, Cryptorchidism	ORPHA:1918
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot	ORPHA:217
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Short phil...	OMIM:280000
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:620135
Isolated Right Ventricular Hypoplasia	Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu...	ORPHA:439
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins...	OMIM:269200
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess	OMIM:612260
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Absent thumb...	ORPHA:392
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Dextr...	OMIM:314390
Kagami-Ogata Syndrome	Patent ductus arteriosus, Retrognathia, Pulmonary arterial hypertension, Ventricular septal defec...	OMIM:608149
Letterer-Siwe Disease	Anemia, Jaundice, Hepatosplenomegaly, Pallor, Thrombocytopenia, Neutropenia	OMIM:246400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Ventricular septal defect, Long philtrum, Atrial septal defect, Coarctation...	OMIM:618494
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Spina bifida, Vertebra...	ORPHA:1120
Distal Tetrasomy 15Q	Patent ductus arteriosus, Retrognathia, High palate, Kyphosis, Micrognathia, Hydrocele testis, At...	ORPHA:314588
3C Syndrome	Atrioventricular canal defect, Ectopic anus, Micrognathia, Short neck, Cleft palate, Orofacial cl...	ORPHA:7
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Pallor, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations,...	ORPHA:276580
Pelger-Huet Anomaly	Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Kyphosis, Short 5th meta...	OMIM:169400
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Coronary Arterial Fistula	Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ...	ORPHA:2041
Primary Pulmonary Hypoplasia	Cyanosis, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Hypoxemia, Dextrocard...	ORPHA:2257
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypogonadism, Bilateral radial...	OMIM:300514
Craniofaciofrontodigital Syndrome	Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Gingival ov...	ORPHA:363705
Meckel Syndrome	Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Encephalocele, Micrognathia, Anence...	ORPHA:564
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur...	OMIM:618108
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut...	OMIM:619375
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,...	OMIM:301082
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Bifid uvula, Cutis marmorata, ...	OMIM:612938
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Enamel hypoplasia, Retrognathia, Cirrhosis, Ventricular septal defect, ...	OMIM:614576
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Vascular ring, Kyphosis, Atrial septal defect, Mitral regurgitation, T...	OMIM:603387
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Broad neck, Bifid uvula, Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Tricu...	OMIM:617506
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Tarp Syndrome	Short sternum, Cyanosis, Pierre-Robin sequence, Tongue nodules, Abnormal duodenum morphology, Mic...	ORPHA:2886
Thakker-Donnai Syndrome	Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Downtur...	ORPHA:1780
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Exaggerated cupid...	OMIM:618619
Noonan Syndrome 2	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa...	OMIM:605275
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Hamamy Syndrome	Dental malocclusion, Enamel hypoplasia, High palate, Long philtrum, Wide mouth, Low posterior hai...	OMIM:611174
20Q13.33 Microdeletion Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Short lower limbs, Atrial septal defect, Hematoc...	ORPHA:261311
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Cleft upper lip, Encephalocele, Ventricular septal defect, Anal atresia, Atrial...	OMIM:264480
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph...	OMIM:301078
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hepatic ...	OMIM:615996
Pentalogy Of Cantrell	Absent gallbladder, Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventri...	ORPHA:1335
Chondrodysplasia, Blomstrand Type	Short ribs, Micrognathia, Stillbirth, Micromelia, Malar flattening, Preductal coarctation of the ...	OMIM:215045
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ...	OMIM:604169
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Kyphosis, Micrognathia, Short philtrum, Atrial septal defect, Narrow mouth, Abnorma...	ORPHA:352490
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr...	OMIM:618316
Monosomy 18Q	Hypothyroidism, Secundum atrial septal defect, Left aortic arch with right descending aorta and r...	ORPHA:1600
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Dystonia 31	Abnormal posturing	OMIM:619565
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia, Atrial septal defect	ORPHA:51208
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Heart Defects, Multiple Types, 3	Right bundle branch block, Atrial septal defect, Abnormal heart morphology, Persistent left super...	OMIM:614954
Down Syndrome	Atrioventricular canal defect, Hypothyroidism, Redundant neck skin, Pulmonary artery stenosis, My...	OMIM:190685
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidi...	OMIM:618652
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Sepsis In Premature Infants	Hypotension, Anemia, Petechiae, Jaundice, Purpura, Pallor, Edema, Tachycardia, Hepatomegaly, Leuk...	ORPHA:90051
Partial Atrioventricular Septal Defect	Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven...	ORPHA:1330
Complete Atrioventricular Septal Defect	Cyanosis, Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ...	ORPHA:1329
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Sh...	ORPHA:17
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Anemia, Hydrops fetalis, Reticulocytopenia, Refractory sideroblastic anemia, Ele...	OMIM:557000
Alg3-Cdg	High palate, Abnormal uvula morphology, Neural tube defect, Macroglossia, Coarctation of the desc...	ORPHA:79321
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, High palate, Long philtrum, Petechiae, Jaundice, ...	OMIM:251290
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom...	OMIM:616276
Blackfan-Diamond Anemia	Acute myeloid leukemia, Absent thumb, Cleft soft palate, Micrognathia, Short neck, Thrombocytopen...	ORPHA:124
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Ventricular septal defect, Broad neck, Low posterior hairline, Short ph...	OMIM:300963
3P25.3 Microdeletion Syndrome	Sacral dimple, Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Deep p...	ORPHA:435638
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Kyphosis, Anal atre...	OMIM:617602
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transi...	ORPHA:99104
Familial Aortic Dissection	Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De...	ORPHA:229
Perlman Syndrome	Everted upper lip vermilion, Volvulus, Interrupted aortic arch, Micrognathia, Pancreatic islet-ce...	OMIM:267000
Emanuel Syndrome	Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Sacral dimple, Broad jaw, Ve...	OMIM:609029
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tric...	ORPHA:99106
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis	OMIM:309620
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Ventricular septal defect, Death in infancy, Thyroid lymphangiectasia, Micrognathia,...	OMIM:235255
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Pallor, Palpitations, Hepatomegaly, Tachycardia	ORPHA:324575
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Recombinant 8 Syndrome	Patent ductus arteriosus, Cleft upper lip, Abnormality of the neck, Ventricular septal defect, Pa...	ORPHA:96167
Chime Syndrome	Pulmonary valve atresia, Ventricular septal defect, Abnormality of the dentition, Microdontia, Ab...	ORPHA:3474
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Decreased proport...	OMIM:618048
8P23.1 Duplication Syndrome	Long philtrum, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic st...	ORPHA:251076
Myelofibrosis	Pallor, Purpura, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	High palate, Death in infancy, Pericardial effusion, Micrognathia, Aortic aneurysm, Atrial septal...	OMIM:620070
8P11.2 Deletion Syndrome	Sacral dimple, Patent ductus arteriosus, High palate, Hemolytic anemia, Hypogonadism, Micrognathi...	ORPHA:251066
Alagille Syndrome	Ventricular septal defect, Butterfly vertebral arch, Vertebral segmentation defect, Micrognathia,...	ORPHA:52
Charge Syndrome	Patent ductus arteriosus, Cleft upper lip, Aortic arch aneurysm, Abnormal cardiac septum morpholo...	ORPHA:138
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Atrial septal defect, Te...	OMIM:300887
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia, Lip discoloration	ORPHA:621
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Abnormal aortic arch morphology, ...	ORPHA:1596
Holoprosencephaly 2	Anterior pituitary agenesis, Diabetes insipidus, Bifid uvula, Submucous cleft hard palate, Median...	OMIM:157170
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Cle...	OMIM:616898
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Cleft upper lip, Short 5th finger, Ventricular septal defect, Perimembranous ventricular septal d...	OMIM:600987
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Short philtrum, Atrial septal defect, Mitral reg...	OMIM:301039
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Leukopenia, Anemia, Macroglossia, Atrial septal defect, Congestive hear...	OMIM:617303
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Braddock-Carey Syndrome 1	Hyperlordosis, Enamel hypoplasia, Pierre-Robin sequence, Ventricular septal defect, Small hand, A...	OMIM:619980
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, High palate, Micrognathia, Spinal canal stenosis, Cutaneous abscess, Atrial sept...	OMIM:618282
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Aortic Aneurysm, Familial Thoracic 4	Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce...	OMIM:132900
Optic Atrophy 1	Pallor	OMIM:165500
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Webbed neck, Ventricular septal defect, Abnormal cardiac septum morphology, Coro...	OMIM:614294
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd...	OMIM:601005
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa...	OMIM:608104
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of ...	OMIM:612562
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Atrial septal defect	OMIM:614249
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated...	ORPHA:20
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Hepatic arteriovenous malformation, Brain abscess, Ischemic stroke, Spontaneous, recurr...	OMIM:187300
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Craniofacia...	ORPHA:2396
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis	OMIM:214300
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe...	OMIM:618330
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Hyperlordosis, Patent foramen ovale, Ventricular septal defect, Long ph...	OMIM:618870
Lujan-Fryns Syndrome	Macroorchidism, High palate, Micrognathia, Short philtrum, Atrial septal defect, Hypoplasia of th...	ORPHA:776
Lambert Syndrome	Intrahepatic biliary atresia, Branchial anomaly, Ventricular septal defect, Wide mouth, Jaundice,...	ORPHA:1296
Fetal Gaucher Disease	High palate, Death in infancy, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Stillbirt...	ORPHA:85212
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Normochromic microcytic anemia, Microvesicular hepatic steatosis, Decreased...	OMIM:610198
Isolated Klippel-Feil Syndrome	Webbed neck, Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Abnormal sacrum...	ORPHA:2345
Hardikar Syndrome	Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Pulmonary artery sten...	OMIM:301068
Aicardi-Goutieres Syndrome 1	Hypothyroidism, Diabetes insipidus, Prolonged neonatal jaundice, Petechiae, Multiple gastric poly...	OMIM:225750
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Pallor, Hypochromic anemia, Mic...	OMIM:600462
Ataxia-Telangiectasia	Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, L...	OMIM:208900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Spinal dysraphism, Micrognathia, Redundant neck skin, Hepatosplenomegaly, Abnormal a...	ORPHA:96334
8p23.1 deletion syndrome	Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Cryptorchidism	DECIPHER:39
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate	ORPHA:93946
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Neonatal death, Micromelia, Hepatosplenomegaly	OMIM:273680
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Hepatomegaly, Pallor	OMIM:246450
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Patent foramen ovale, Ventricular septal defect, Death in infancy, ...	OMIM:208085
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Malar flatt...	ORPHA:52056
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Ventricular septal defect, Hepatitis, Type I diabet...	ORPHA:436252
Acquired Methemoglobinemia	Cyanosis, Syncope, Hypoxemia, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia	ORPHA:464453
Emanuel Syndrome	Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, Redundant...	ORPHA:96170
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Bifid uvula, Short neck, Cleft palate, Absence of the pulmonary...	OMIM:601808
De Barsy Syndrome	Patent ductus arteriosus, Small, conical teeth, Ventricular septal defect, High palate, Delayed e...	ORPHA:2962
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Noonan Syndrome 8	Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Palmoplantar cutis laxa, Left v...	OMIM:615355
Noonan Syndrome 4	Dental malocclusion, Webbed neck, Ventricular septal defect, Wide mouth, Atrial septal defect, Br...	OMIM:610733
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner...	ORPHA:94066
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Potocki-Lupski Syndrome	Patent foramen ovale, Dental malocclusion, Mandibular prognathia, High palate, Hypothyroidism, Wi...	OMIM:610883
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Malabsorption, Purpura,...	ORPHA:183
Congenital Tricuspid Valve Dysplasia	Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnorm...	ORPHA:555874
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Beta-Ketothiolase Deficiency	Hypotension, Hypertension, Pallor, Edema, Thrombocytosis, Leukocytosis, Dehydration, Hepatomegaly	ORPHA:134
Neuralgic Amyotrophy	Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Asbestos Intoxication	Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Right ventricular fail...	ORPHA:2302
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ...	OMIM:618974
Afibrinogenemia, Congenital	Death in infancy, Epidural hemorrhage, Bruising susceptibility, Splenic rupture, Epistaxis, Subdu...	OMIM:202400
Fg Syndrome Type 1	Broad neck, Abnormal large intestine morphology, Micrognathia, Small pituitary gland, Sacral dimp...	ORPHA:93932
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Abnormality of the t...	OMIM:611926
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal...	OMIM:619472
Suleiman-El-Hattab Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Thick lo...	OMIM:618950
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Subvalvular aortic stenosis, Hamartoma of tongue, Complete atrioventricular canal defect, Coarcta...	OMIM:217085
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Hypoplastic right...	OMIM:618142
Acute Interstitial Pneumonia	Cyanosis, Reduced hematocrit, Pericardial effusion, Hypoxemia, Hypertension, Lymphadenopathy	ORPHA:79126
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Retrognathia, Anemia, Vascular dilatation, Precocious puberty, Abnormal...	ORPHA:2637
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor	OMIM:616959
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Retrognathia, Narrow palate, Ventricular septal defect, High palate, Pe...	OMIM:158170
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Neuropathic spinal arthropat...	ORPHA:397709
Brachytelephalangic Chondrodysplasia Punctata	Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Pulmonary artery steno...	ORPHA:79345
Hereditary Folate Malabsorption	Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia	ORPHA:90045
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Pearson Syndrome	Hypothyroidism, Anemia, Decreased response to growth hormone stimulation test, Abnormality of the...	ORPHA:699
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia	OMIM:612527
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal palate morphology...	ORPHA:261183
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Carotid a...	ORPHA:91387
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Deep ph...	OMIM:309520
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Bicuspid a...	ORPHA:329224
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Fused cervical vertebrae...	OMIM:617159
Dystonia 1, Torsion, Autosomal Dominant	Hyperlordosis, Abnormal posturing, Scoliosis, Kyphosis	OMIM:128100
Noonan Syndrome 10	Patent ductus arteriosus, High palate, Ventricular septal defect, Webbed neck, Palmoplantar cutis...	OMIM:616564
Histiocytosis-Lymphadenopathy Plus Syndrome	Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ...	OMIM:602782
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Patent ductus arteriosus, High palate, Ventricular septal defect, Bicuspid ...	OMIM:121050
Trisomy 13	Patent ductus arteriosus, Ventricular septal defect, Kyphosis, Long philtrum, Atrial septal defec...	ORPHA:3378
Gaucher Disease, Type Ii	Anemia, Death in infancy, Double aortic arch, Trismus, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:230900
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
Prune Belly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Decreased testicular size, Vertebral segment...	ORPHA:2970
Multisystemic Smooth Muscle Dysfunction Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic...	OMIM:613834
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Dental malocclusion, Retrognathia, Thick upper lip vermilion, Perimembr...	ORPHA:363444
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Delayed eruption of teeth, Bifid uvula, Abnormality of the pulmonary artery, Pulmonary ...	ORPHA:261537
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Narrow mouth, Scoliosis, Cleft lip, Cleft...	ORPHA:398156
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Delayed eruption of teeth, Bifid uvula, Abnormality of the pulmonary artery, Pulmonary ...	ORPHA:261552
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Autosomal Recessive Robinow Syndrome	Bifid tongue, Ectopic anus, Micrognathia, Short neck, Gingival overgrowth, Orofacial cleft, Sacra...	ORPHA:1507
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Webbed neck, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Short distal phalanx...	OMIM:601355
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function,...	ORPHA:99103
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Hypoplastic lef...	ORPHA:2001
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema, Anemia, Hematochezia	ORPHA:329971
Microphthalmia, Syndromic 12	Retrognathia, Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Cryptorchidism	OMIM:615524
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Anemia, Megaloblastic anemia, High palate, Glossitis, Pancytopenia, Atr...	OMIM:277380
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Patent foramen ovale, Retrognathia, High palate, Ventricular septal defect,...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us