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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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
Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Cryptorchidism, Ventricul... ORPHA:457193
Arboleda-Tham Syndrome
Webbed neck, Microretrognathia, Secundum atrial septal defect, Downturned corners of mouth, Bilat... OMIM:616268

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Tra... OMIM:231060
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo... OMIM:208530
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Webbed neck, Cleft lip, Kyphosis, Decreased response to growth hormon... OMIM:618223
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Te... OMIM:601186
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Increased mean corpuscular volume, Extramedullary hematopoi... OMIM:617021
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Micrognathia, Ventricular septal defect, Cardiomegaly, ... OMIM:617022
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, Asplen... OMIM:612776
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Failure to thrive, Abnormal natural killer cell mo... OMIM:615617
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Cryptorchidism, Cyanosis, Thin upper lip vermilion, Persistent... ORPHA:3304
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Pal... ORPHA:163596
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Anomalous pulmonary venous re... OMIM:619657
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neonatal death, Bi... OMIM:265380
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V... ORPHA:210122
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ... ORPHA:90064
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... OMIM:617241
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial sep... OMIM:601927
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Cryptorchidism,... OMIM:619123
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Stillbirth, Abnormal heart morphology, Abnormality of the ne... ORPHA:294975
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Mosaic Trisomy 9
Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, ... ORPHA:99776
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Abnormally low T cell receptor excision circle level, Cervical lymp... OMIM:618987
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Micrognathia, Conotruncal def... ORPHA:40366
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Death in childhood, Ventricu... OMIM:613759
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorr... OMIM:185070
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic ... ORPHA:1354
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Sweeney-Cox Syndrome
Broad neck, Short distal phalanx of finger, Velopharyngeal insufficiency, Bilateral cryptorchidis... OMIM:617746
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in ... OMIM:617478
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Short thumb, Retrognathi... OMIM:612561
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp... ORPHA:848
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Phocomelia, Duodenal atresia, Vertebral segmentation defect ORPHA:3004
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Feingold Syndrome 1
Accessory spleen, Interrupted aortic arch, Annular pancreas, Short toe, Polysplenia, Short thumb,... OMIM:164280
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... ORPHA:101028
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy... OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Ankyloglossia, Micrognathia, Aplasia of the thymus, A... OMIM:620186
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly... OMIM:102700
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura ORPHA:3204
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Thin u... ORPHA:477817
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Velopharyng... OMIM:192430
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tetralogy of ... ORPHA:3426
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Scoliosis, Stillbirth, Cleft upper lip, Umbilical hernia, Aplasia... OMIM:308050
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hemolytic anemia, Coombs-positi... OMIM:614034
Monosomy 22
Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Aplasia of the thymus, Short neck, H... ORPHA:96123
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Death in childhood, Intestinal obstruction, Ventricu... OMIM:243150
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ... OMIM:605376
Evans Syndrome
Epistaxis, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neutropenia in presence of an... ORPHA:1959
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Oral ulcer, Neutropenia, H... OMIM:612541
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Leukocytosis... ORPHA:824
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Meckel Syndrome 14
Hepatic fibrosis, Microretrognathia, Occipital encephalocele, Retrognathia, Tricuspid regurgitati... OMIM:619879
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Diabetic Embryopathy
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Abnormal aortic morphol... ORPHA:1926
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Short 5th finger, Absent gallbladder, Cryptorchidism, Ventricular septal... ORPHA:163979
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... OMIM:613561
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology OMIM:613501
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ... OMIM:620642
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, M... OMIM:617616
Digeorge Syndrome
Micrognathia, Hepatic steatosis, Ovarian cyst, Ventricular septal defect, Intervertebral disk deg... OMIM:188400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries, Everted lo... OMIM:616789
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... OMIM:620210
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Micrognathia, Abnormal lower lip morphology, Abnormal aortic... ORPHA:1166
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Pallor, Thro... ORPHA:3226
Catel-Manzke Syndrome
Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Overriding aorta, Short ne... OMIM:616145
Craniofacioskeletal Syndrome
Interrupted aortic arch, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Ventricula... OMIM:300712
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Cleft lip, Thick lower lip vermilion, Ventricular s... OMIM:616920
Catel-Manzke Syndrome
Oral synechia, Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect, G... ORPHA:1388
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone st... OMIM:618624
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Thin upper lip vermilion, Perimembranous ventricular septal defec... OMIM:617877
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Large placenta, Micrognathia, Cryptorchidism, Short neck, A... OMIM:249000
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count OMIM:612782
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Widely-spaced maxillary central incisors, Thick lower lip vermilion, Micrognathia, Ventricular se... OMIM:608227
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... OMIM:604381
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocyt... ORPHA:49827
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ... ORPHA:277
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Ververi-Brady Syndrome
Thin upper lip vermilion, Smooth philtrum, Transposition of the great arteries, Everted lower lip... OMIM:617982
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Death in infancy, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal heart morphology, Micrognathia, Cryptorchidism, Death in childhood, Hypoplasia of the th... OMIM:214110
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Cutis marmorata, Aplasi... OMIM:615297
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Thin ver... OMIM:615502
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Bifid uvula, Ascending tubular aorta aneurysm, Arterial tortuosity OMIM:132800
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Congenital Dyserythropoietic Anemia Type Iii
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal d... ORPHA:290
Atelis Syndrome 1
Carious teeth, Long philtrum, Leukopenia, Ventricular septal defect, Lumbar kyphosis, Hypothyroid... OMIM:620184
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Decrea... OMIM:617053
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Retrognathia, Progeroid facial appearance... OMIM:613177
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Diamond-Blackfan Anemia 16
Anemia, Atrial septal defect, Pulmonic stenosis OMIM:617408
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... ORPHA:3097
Nemaline Myopathy 9
Micrognathia, Ventricular septal defect, High palate, Scoliosis, Cleft palate OMIM:615731
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Tetralogy o... OMIM:179613
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se... OMIM:214800
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Tetralogy of Fallot, Cleft soft palate, Med... ORPHA:2919
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Rhizomelic arm shortening, Cervical ... OMIM:101200
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ... OMIM:277740
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Cryptorchidism, Abnormal cardiac septum mo... ORPHA:250989
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Cyanosis, Pulmonary arterial hyp... ORPHA:2414
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... OMIM:619824
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Tachycardia ORPHA:90037
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... ORPHA:2255
14Q11.2 Microdeletion Syndrome
Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, De... ORPHA:261120
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thiamine-responsive... OMIM:249270
Fryns Syndrome
Micrognathia, Cryptorchidism, Short neck, Anal atresia, High palate, Non-midline cleft of the upp... ORPHA:2059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... OMIM:601457
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, ... ORPHA:3386
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Williams Syndrome
Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Mitral regurgitation, Mitral v... ORPHA:904
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Asplenia, Situs inversus totalis, Chronic sinusitis OMIM:244400
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Congenital Fibrinogen Deficiency
Gingival bleeding, Bruising susceptibility, Volvulus, Hemorrhagic ovarian cyst, Decreased testicu... ORPHA:335
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, High palate, Rectovaginal f... ORPHA:861
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Brain abscess, Transient ischemic attack, Pulmonary hemorrhage... ORPHA:2038
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Vent... OMIM:615524
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Female hypogonadism, Male hypogonadism, Cholelithiasis, Type I diabetes melli... OMIM:240300
Feingold Syndrome Type 1
Interrupted aortic arch, Short thumb, Duodenal atresia, Abnormal heart morphology, Short middle p... ORPHA:391641
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Atrial septal defect, High palate, Hypoplastic aortic arch, Pa... OMIM:614846
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Scolios... OMIM:619717
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Short neck,... ORPHA:567
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Coarctation of aorta, Pulmonary arterial hypertension, Atrial septa... OMIM:614857
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepat... ORPHA:397596
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Short distal phalanx of finger, Micrognathia, Abnormal aortic m... ORPHA:2516
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis OMIM:614876
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn... ORPHA:90308
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Micromelia, Micrognathia, Malar flattening, Short ribs, Preductal ... OMIM:215045
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Tr... ORPHA:401935
Pseudoaminopterin Syndrome
Short thumb, Sacrococcygeal pilonidal abnormality, Micrognathia, Cryptorchidism, Patent foramen o... ORPHA:221120
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Vertebral segmentation defect, Missing ribs, Aplasia/Hyp... ORPHA:3186
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Phaver Syndrome
Short thumb, Abnormal form of the vertebral bodies, Myelomeningocele, Butterfly vertebrae, Ventri... ORPHA:2876
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic le... ORPHA:90033
Fliedner-Zweier Syndrome
Long philtrum, High palate, Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Trach... OMIM:620511
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276556
Perching Syndrome
High palate, Scoliosis, Cyanosis OMIM:617055
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Focal pancreatic... ORPHA:276575
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Iron deficiency anemia, Hepatomegaly, He... ORPHA:99931
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopa... OMIM:309801
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Aortic root aneurysm, Short toe, Umbilical hernia, Tricuspid regurgitati... ORPHA:404443
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Short finger OMIM:302000
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Li-Campeau Syndrome
Patellar hypoplasia, Long philtrum, Cryptorchidism, Patent foramen ovale, Ventricular septal defe... OMIM:619189
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal aortic arch morphology, Ab... ORPHA:2306
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Short neck, Atrial septal d... OMIM:105650
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Foot oligodactyly, Cutis marmorata, Portal hypertensio... OMIM:616589
Carpenter Syndrome 1
Polysplenia, Tetralogy of Fallot, Agenesis of permanent teeth, Persistence of primary teeth, Cryp... OMIM:201000
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Leukemi... ORPHA:33226
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of hemoglobin F, Umbilical hernia, Persistence of primary teeth, Ven... OMIM:619769
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, C... OMIM:313850
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Long philtrum, Anteriorly placed anus, Abnormal heart morphology, Increased ... OMIM:618494
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Atrial septal defect, Tachycardia, Patent ductus arteriosus,... ORPHA:980
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Microgn... ORPHA:2257
Distal Triplication 15Q
Kyphosis, Retrognathia, Abnormal heart morphology, Micrognathia, Atrial septal defect, High palat... ORPHA:314588
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... OMIM:618108
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pall... ORPHA:98849
Roifman Syndrome
Biconvex vertebral bodies, Short toe, Downturned corners of mouth, Long philtrum, Splenomegaly, V... OMIM:616651
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Micromelia, Hypertrophic cardiomyopathy, Redundant neck skin, Short ribs, Hepatomegal... ORPHA:1842
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Mandibular pr... ORPHA:3434
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Fetal Minoxidil Syndrome
Micrognathia, Umbilical hernia, Cryptorchidism, Ventricular septal defect ORPHA:1918
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276580
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hadziselimovic Syndrome
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec... OMIM:612946
Ciliary Dyskinesia, Primary, 37
Goiter, Right aortic arch, Situs inversus totalis, Hypothyroidism, Dextrocardia OMIM:617577
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Low poster... OMIM:617506
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Situs inversus... ORPHA:564
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Aplasia/Hypoplasia of the radius, Absent thumb, K... ORPHA:392
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Pelger-Huet Anomaly
Abnormality of the dentition, Giant platelets, Short 3rd metacarpal, Umbilical hernia, Upper limb... OMIM:169400
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Splenomegaly, Ventricular s... OMIM:608149
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Double Outlet Left Ventricle
Cryptorchidism, Cyanosis, Abnormal right ventricular function, Cardiomegaly, Ventricular septal d... ORPHA:3427
Pseudotrisomy 13 Syndrome
Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complete atrioventricular canal defect, C... OMIM:264480
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Tricuspid regurgitation, Atrioventricular canal defe... ORPHA:1120
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Exaggerated cupid's bow, Ventricular septal defect, Bi... OMIM:618619
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Aplastic anemia, Absent thumb, Duodenal ... OMIM:300514
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistula, Micrognath... OMIM:619343
3C Syndrome
Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,... ORPHA:7
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Ventricular septal defect, Thoracic scoliosis, Atrial septal defect, Kyphos... OMIM:603387
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positive helpe... OMIM:208900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Smooth phi... ORPHA:261311
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Crypto... OMIM:612938
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Ventricular septal defect OMIM:619995
Dystonia 31
Abnormal posturing OMIM:619565
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Hepatic steatosis, Patent foramen ovale, Sh... ORPHA:17
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Tarp Syndrome
Extramedullary hematopoiesis, Hypoplasia of proximal radius, Tetralogy of Fallot, Micrognathia, C... ORPHA:2886
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Cholestasis, Pancytopenia, Splenomegaly, Death... OMIM:614576
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Umbilical hernia, Abnormal heart morphology, Micrognathia, Narrow mouth, Cryptorchi... ORPHA:352490
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morpholo... ORPHA:1335
Thakker-Donnai Syndrome
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal defect, Trache... ORPHA:1780
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ov... OMIM:618652
Hamamy Syndrome
Hypochromic anemia, Dental malocclusion, Long philtrum, Short 2nd finger, Microcytic anemia, Prol... OMIM:611174
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, ... OMIM:618316
Sepsis In Premature Infants
Hypotension, Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegal... ORPHA:90051
Monosomy 18Q
Aortic valve stenosis, Open mouth, Mitral regurgitation, High palate, Patent ductus arteriosus, D... ORPHA:1600
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Holoprosencephaly 2
Anterior pituitary agenesis, Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft ... OMIM:157170
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure ORPHA:91130
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Chromosome 5Q12 Deletion Syndrome
Hypotension, Long philtrum, Increased nuchal translucency, Micrognathia, Patent foramen ovale, Ve... OMIM:615668
Pseudo-Torch Syndrome 1
Microretrognathia, Cleft lip, Long philtrum, Umbilical hernia, Splenomegaly, Patent foramen ovale... OMIM:251290
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol... OMIM:616276
Alg3-Cdg
Cardiomyopathy, High palate, Macroglossia, Abnormality of the endocrine system, Abnormal uvula mo... ORPHA:79321
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
3P25.3 Microdeletion Syndrome
Acromesomelia, High, narrow palate, Scoliosis, Downturned corners of mouth, Sacral dimple, Microg... ORPHA:435638
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Cryptorchidism OMIM:616910
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Mitral regurgitation, Cryptorchidism, Ventricular septal defect... OMIM:301039
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Microgn... OMIM:620070
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Distal Deletion 15Q
Small hand, Micrognathia, Cryptorchidism, Bicuspid aortic valve, Patent ductus arteriosus, Hypopl... ORPHA:1596
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Everted upper lip vermilion, Volvulus, Micrognathi... OMIM:267000
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Cleft soft palate... ORPHA:124
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Delayed eruption ... OMIM:609029
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven... OMIM:600987
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Thickened nuchal skin fold, Alveolar ridge overgrowth, Pancreatic lym... OMIM:235255
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Thick vermi... ORPHA:251076
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal... OMIM:617602
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... ORPHA:101096
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Complete atrioventricular canal defect, Coarctation of aorta, Orofacial clef... OMIM:217085
Chime Syndrome
Abnormality of the dentition, Acute leukemia, Tetralogy of Fallot, Abnormal dental morphology, Mi... ORPHA:3474
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Lip discoloration ORPHA:621
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l... OMIM:618048
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Long philtrum, Cholestasis, Decreased circulating T4 concentration, C... OMIM:608104
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Open mouth, Ventricular septal defect, Everted lower lip vermilion, Acute lymphoblastic leukemia,... OMIM:280000
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal aortic morpho... ORPHA:2396
Charge Syndrome
Narrow mouth, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, Aortic arch aneurysm... ORPHA:138
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Redundant neck skin, Acrocyanosis, Cleft palate ORPHA:2901
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia, Atrial septal defect ORPHA:51208
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Autoimmune thrombocytopenia, Purpura OMIM:613496
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Alagille Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb... ORPHA:52
8P11.2 Deletion Syndrome
Hypogonadism, Micrognathia, Splenomegaly, Mitral valve prolapse, Cryptorchidism, Hypogonadotropic... ORPHA:251066
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Deh... ORPHA:20
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Short thumb, Tetralogy of Fallo... OMIM:612562
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Micromelia, Long philtrum, Tricuspid regurgitation, Increased nuchal transluce... OMIM:618870
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Tetralogy of Fallot, ... ORPHA:96167
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Congestive heart failure, Hypertrophic cardiomyopathy, Leukopenia, T... OMIM:617303
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Splenomegaly, Petechiae, Multiple gastric polyps, Hepatomeg... OMIM:225750
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae OMIM:309620
Braddock-Carey Syndrome 1
Small hand, Anteriorly placed anus, Thick vermilion border, Aortic valve prolapse, Ventricular se... OMIM:619980
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugula... ORPHA:2302
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Partial atrioventricular canal defect, Hepatic steatosis, V... OMIM:615996
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Cutaneous abscess, Micrognathia, Recurrent sinusitis, Eosinophilia,... OMIM:618282
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Polysplenia, Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, C... OMIM:614294
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Micrognathia, Wide mouth, Patent foramen ovale, Smooth phil... OMIM:610883
De Barsy Syndrome
Delayed eruption of teeth, Prominent veins on trunk, Umbilical hernia, Progeroid facial appearanc... ORPHA:2962
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Death in infancy, Neonatal death, High pal... ORPHA:85212
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... OMIM:616898
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul... OMIM:301068
Acquired Methemoglobinemia
Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia, Hypoxemia ORPHA:464453
Isolated Klippel-Feil Syndrome
Webbed neck, Abnormality of the vertebral column, Congenital muscular torticollis, Low posterior ... ORPHA:2345
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Thin upper lip vermilion, Ventricular septal defect, Atrial septal defect, Patent du... OMIM:618330
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Large placenta, Micrognathia, Cryptorchidi... ORPHA:96334
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Normochromic microcytic anemia, Decreased testi... OMIM:610198
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Beta-Ketothiolase Deficiency
Hypotension, Dehydration, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Hypertension, Edema ORPHA:134
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Atrial septal defect, Cleft palate ORPHA:93946
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Verheij Syndrome
Short 5th finger, Branchial cyst, Retrognathia, Long philtrum, Truncus arteriosus, Ventricular se... OMIM:615583
Lambert Syndrome
Cholestasis, Branchial anomaly, Malar flattening, Ventricular septal defect, Intrahepatic biliary... ORPHA:1296
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Micrognathia, Cleft soft... OMIM:619472
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Jejunoileal ulceration, Intestinal malro... ORPHA:436252
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:96170
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Short phi... ORPHA:776
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Autoimmune hemolytic anemia ORPHA:90036
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia, Neonatal death OMIM:273680
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defec... OMIM:601808
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Short philtrum, Ectopic... ORPHA:94066
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Subdural hemorrhage, Bruising susceptibility, Death in childhood, D... OMIM:202400
Acute Interstitial Pneumonia
Reduced hematocrit, Cyanosis, Lymphadenopathy, Pericardial effusion, Hypertension, Hypoxemia ORPHA:79126
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Micrognathia, Patent foramen ovale, Ventricular ... OMIM:208085
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septa... OMIM:615355
Fg Syndrome Type 1
Facial wrinkling, Micrognathia, Open mouth, Cryptorchidism, Mitral valve prolapse, Atrial septal ... ORPHA:93932
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Micrognathia, Ventricular septal defect, Atrial septal defect, High palate, Hypopla... OMIM:618142
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Atrial septal defect, Aplasia/Hypopla... ORPHA:52056
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Noonan Syndrome 2
Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai... OMIM:605275
Necrotizing Enterocolitis
Hypotension, Shock, Abnormal heart morphology, Leukocytosis, Cyanosis, Peritonitis, Neutropenia, ... ORPHA:391673
Noonan Syndrome 4
Webbed neck, Dental malocclusion, Bruising susceptibility, Hypertrophic cardiomyopathy, Wide mout... OMIM:610733
Suleiman-El-Hattab Syndrome
Webbed neck, Microretrognathia, Downturned corners of mouth, Long philtrum, Thick lower lip vermi... OMIM:618950
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis OMIM:128100
Chromosome 9P Deletion Syndrome
High, narrow palate, Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Mala... OMIM:158170
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Downturned corners of mouth, Diastema, Umbilical hernia, Wide mouth, Cryptorchidism, Patent foram... ORPHA:329224
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... ORPHA:2001
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Patent foramen ovale, Kypho... OMIM:620075
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... ORPHA:699
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Open mouth, Cryptorchidism, Bicuspid aortic valve, Abno... ORPHA:261537
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hyphema, Open mouth, Cryptorchidism, Ventricular septal... ORPHA:261552
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Long philtrum, Hepatosplenomegaly, Kyphoscoliosis, Broad philtrum, Deep philtrum... ORPHA:397709
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Abnormal pulmonary ... ORPHA:199241
Teebi Hypertelorism Syndrome 1
Small hand, Natal tooth, Aortic root aneurysm, Long philtrum, Dental crowding, Micrognathia, Vent... OMIM:145420
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Ventricular septal defect, Atrial septal defect, Thick vermilion bor... OMIM:618974
Gaucher Disease, Type Ii
Splenomegaly, Death in infancy, Hepatomegaly, Thrombocytopenia, Trismus, Anemia, Double aortic arch OMIM:230900
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... OMIM:301310
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Fam