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, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... ORPHA:457193
Arboleda-Tham Syndrome
Microretrognathia, Thin upper lip vermilion, Atrial septal defect, Mandibular prognathia, Ventric... 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
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism... OMIM:601186
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inver... OMIM:616749
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Short n... OMIM:617022
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Hypoglossia With Situs Inversus
Micrognathia, Asplenia, Situs inversus totalis, High palate, Hypodontia, Polysplenia, Narrow mout... OMIM:612776
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... ORPHA:1727
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus... ORPHA:3304
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... OMIM:265380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... ORPHA:210122
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect... OMIM:619657
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... ORPHA:90064
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
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... OMIM:620294
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent duc... OMIM:601927
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormality of the neck, Abnormal... ORPHA:294975
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Kyphosis, Cleft pal... OMIM:619123
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... OMIM:615415
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Left superior vena cava drai... OMIM:613759
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora... OMIM:602450
Mosaic Trisomy 9
Ventricular septal defect, Intestinal malrotation, Spina bifida, Short neck, Asplenia, Cryptorchi... ORPHA:99776
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Asplenia, Situs inve... ORPHA:244
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, S... OMIM:185070
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Dextrocardia, Situs inversus totalis OMIM:618948
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Micrognathia, A... OMIM:164280
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Sweeney-Cox Syndrome
Micrognathia, Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, Patent ductus art... OMIM:617746
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Transaldolase Deficiency
Coarctation of aorta, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirr... ORPHA:101028
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Atrial septal defe... OMIM:620186
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Adrenal hypoplasia, Cleft ... OMIM:308050
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Intestinal malrotation, Sub... ORPHA:3426
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat... ORPHA:477817
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... ORPHA:1110
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... OMIM:614034
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Monosomy 22
Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Thin vermil... ORPHA:96123
Heterotaxy, Visceral, 2, Autosomal
Intestinal malrotation, Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal de... OMIM:605376
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema... OMIM:243150
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, ... ORPHA:95430
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ... ORPHA:83471
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis OMIM:601086
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Deep philtrum, P... OMIM:606003
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Cyanosis, Tricuspid regurgitation, Short neck, Microg... OMIM:619879
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Hypertrophic cardiomyo... OMIM:613561
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Cleft palate, Abnormal aortic mor... ORPHA:1926
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent d... ORPHA:163979
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... OMIM:617616
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... OMIM:620210
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... OMIM:616789
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Heart And Brain Malformation Syndrome
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low... OMIM:616920
Catel-Manzke Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Scoliosis, Atrial septal def... ORPHA:1388
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Micrognathia, Cryptorchi... OMIM:300712
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Cleft palate, Tooth... ORPHA:1166
Catel-Manzke Syndrome
Short neck, Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metacarpal, Overriding ao... OMIM:616145
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol... ORPHA:2306
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Lobulated tongue... OMIM:249000
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... OMIM:618624
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ... OMIM:608227
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... OMIM:617877
Cardiac-Urogenital Syndrome
Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary si... OMIM:618280
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Meacham Syndrome
Accessory spleen, Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular sept... OMIM:608978
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia... ORPHA:290
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... OMIM:615297
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... OMIM:617982
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa... ORPHA:49827
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Cryptorchidism, Jaundice, Cleft pala... OMIM:214110
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long ... OMIM:620184
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... ORPHA:228190
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, Coarctation ... OMIM:615502
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
8P23.1 Microdeletion Syndrome
Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy,... ORPHA:251071
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Adrenal hypoplasia, Progeroid facial appearance, Vascular dil... OMIM:613177
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis, Anemia OMIM:617408
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Igg4-Related Aortitis
Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aort... ORPHA:449400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Scoliosis OMIM:615731
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukopenia, Adrenal i... OMIM:617053
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous ... ORPHA:2326
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Immunodeficiency 9
Death in infancy, Ectodermal dysplasia, Hypoplasia of the thymus, Recurrent aphthous stomatitis, ... OMIM:612782
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... OMIM:600001
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es... OMIM:101200
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... OMIM:179613
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... ORPHA:2255
14Q11.2 Microdeletion Syndrome
Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Deep philtrum, Patent ductus ar... ORPHA:261120
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood OMIM:253300
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Short foot, Abnormal cardiac septum morphology, High pa... ORPHA:250989
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... OMIM:249270
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Fryns Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Abnormal aortic arch morphology, High palat... ORPHA:2059
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chyloper... ORPHA:2414
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... OMIM:240300
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Gingival b... ORPHA:335
Ciliary Dyskinesia, Primary, 1
Asplenia, Chronic sinusitis, Absent frontal sinuses, Situs inversus totalis OMIM:244400
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Card... ORPHA:3386
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Scoliosi... OMIM:619717
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Myocard... ORPHA:904
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, High palate... OMIM:614846
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short philtr... ORPHA:567
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha... ORPHA:391641
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Pulmonary Arteriovenous Malformation
Brain abscess, Liver abscess, Transient ischemic attack, Cyanosis, Myocardial infarction, Epistax... ORPHA:2038
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia... OMIM:614857
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ... ORPHA:2516
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... OMIM:615524
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Hepatomegaly, Ventricular septal defect, Jaundice, Glossoptosis OMIM:614876
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Enc... ORPHA:861
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... OMIM:212093
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding aorta, Hypoplas... ORPHA:3186
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Pseudoaminopterin Syndrome
Micrognathia, Asplenia, Cryptorchidism, Short thumb, Sacrococcygeal pilonidal abnormality, Orofac... ORPHA:221120
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Phaver Syndrome
Ventricular septal defect, Short thumb, Myelomeningocele, Hypoplastic aortic arch, Abnormal form ... ORPHA:2876
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Cleft palate, Anteri... OMIM:309801
Perching Syndrome
Cyanosis, High palate, Scoliosis OMIM:617055
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... ORPHA:86839
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Death in childhood OMIM:302000
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... ORPHA:404443
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Li-Campeau Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Patellar hyp... OMIM:619189
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Intestinal malrotation... ORPHA:401935
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom... OMIM:616589
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... ORPHA:439
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Rhizomelia, Micromelia, Short neck, Patent ductus arteriosus, ... ORPHA:1842
Thoracoabdominal Syndrome
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great arteries, Ect... OMIM:313850
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro... OMIM:105650
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Thick lower lip vermili... OMIM:612946
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem... ORPHA:99931
Roifman Syndrome
Thin upper lip vermilion, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, ... OMIM:616651
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... OMIM:314390
Carpenter Syndrome 1
Ventricular septal defect, Persistence of primary teeth, Cryptorchidism, Patent ductus arteriosus... OMIM:201000
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... ORPHA:97214
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... OMIM:618494
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patellar hypop... ORPHA:2257
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:608149
Distal Triplication 15Q
Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphol... ORPHA:314588
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft ORPHA:3434
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Short thumb, Pate... ORPHA:1120
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
3C Syndrome
Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft... ORPHA:7
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hy... OMIM:169400
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognat... ORPHA:564
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Sho... OMIM:300514
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... OMIM:618619
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Mitral regurgitation, Atr... OMIM:603387
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen... OMIM:617506
Peripheral Cone Dystrophy
Pallor OMIM:609021
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Fetal Minoxidil Syndrome
Umbilical hernia, Micrognathia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C... OMIM:619343
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:363705
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
20Q13.33 Microdeletion Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplast... ORPHA:261311
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Splenomegaly, Patent duc... OMIM:614576
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... ORPHA:3282
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Cryptorchidism, Patent... OMIM:612938
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alve... ORPHA:2886
Dystonia 31
Abnormal posturing OMIM:619565
Thakker-Donnai Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... ORPHA:1780
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hepatomegaly, Short femur, Short humerus, Patent ductus arteriosus, Orofacial ... ORPHA:17
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Stillbirth, Short ribs, Preductal coarctation of the aorta, Malar flatt... OMIM:215045
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Microgna... OMIM:605275
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Prolonged QRS complex, Microcytic anemia, Micrognat... OMIM:611174
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... ORPHA:1600
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, No... ORPHA:1335
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Petechiae, Edema, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decrea... ORPHA:90051
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cle... OMIM:264480
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Cryptorchidism, Kyphosis, Abnormal heart morphology, Short philtrum, Scoliosis, Nar... ORPHA:352490
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Down Syndrome
Redundant neck skin, Short palm, Atrial septal defect, Atrioventricular canal defect, Hypothyroid... OMIM:190685
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Atrial septal defect, Mesenteric cyst, Exaggerated cupid's bow, Intesti... OMIM:618316
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Microg... ORPHA:435638
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Petechiae, Splenomegaly, Cleft lip, Patent ductus arteriosus, Ja... OMIM:251290
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Scolios... OMIM:616276
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Ventricular septal defect, Short neck, Micrognathia, Patent ductus arteriosus, Inc... OMIM:615668
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ... OMIM:618652
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Alg3-Cdg
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Macroglossia, Neu... ORPHA:79321
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop... ORPHA:124
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Micrognathia, Carious teeth, Pericardial effusion, Multiple muscular ventricula... OMIM:620070
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Familial Aortic Dissection
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... ORPHA:229
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Cyanosis, Transient ischemic attack, Left-to-right ... ORPHA:99104
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis OMIM:309620
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Atrial septal defect, Cryptorchidism, Patent ductus a... OMIM:609029
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... ORPHA:251076
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Double outl... ORPHA:1596
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricu... OMIM:235255
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Micrognathia, Cryp... OMIM:267000
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... ORPHA:3474
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pallor, Neutr... ORPHA:101096
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Intestinal malrotation, Ventricular septal defect, Cutis marmorata, Carious teet... OMIM:617602
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly, Paten... ORPHA:251066
Hereditary Methemoglobinemia
Lip discoloration, Methemoglobinemia, Cyanosis ORPHA:621
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Acute lymphoblastic le... OMIM:280000
Charge Syndrome
Delayed eruption of teeth, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cleft upper lip, ... ORPHA:138
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Multiple gastric... OMIM:225750
Optic Atrophy 1
Pallor OMIM:165500
Recombinant 8 Syndrome
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Patent ... ORPHA:96167
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Holoprosencephaly 2
Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Bilateral cleft lip a... OMIM:157170
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Butt... ORPHA:52
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Splenomegaly, Patent ductus arteriosus, Congestive heart failure, Low p... OMIM:617303
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Pierre-Robin sequence, Small han... OMIM:619980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... OMIM:612562
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Short phil... OMIM:301039
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Abnormality of the dentition, Micrognathia, Sterile abscess, Spinal canal stenosis,... OMIM:618282
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Leukocyto... ORPHA:20
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Short neck, Decreased circulating T4 concentration, Cryptorchidis... OMIM:608104
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Hypothyroidism, Dental malocclusion, Wide m... OMIM:610883
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp... OMIM:614294
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Atria... OMIM:618330
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... OMIM:208900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Tricuspid regurgitation, Ventricular septal defect, Micromelia, Hyperlordosis,... OMIM:618870
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prol... ORPHA:2396
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... ORPHA:2345
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Intracrani... ORPHA:85212
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Short neck... OMIM:615583
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly, Intrahepatic bil... ORPHA:1296
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Short neck, Micrognathia,... ORPHA:96334
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening ORPHA:93946
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Microv... OMIM:610198
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly OMIM:273680
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Emanuel Syndrome
Redundant neck skin, Dental crowding, Micrognathia, High palate, Atrial septal defect, Bifid uvul... ORPHA:96170
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth ORPHA:2901
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Progeroid facial appearance, Kyphoscoliosis... ORPHA:2962
Asbestos Intoxication
Cyanosis, Right ventricular failure, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibro... ORPHA:2302
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Micrognathia, Hepatic melanin-... OMIM:208085
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Hamartoma of tongue, Coarcta... OMIM:217085
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... OMIM:601808
Lujan-Fryns Syndrome
Atrial septal defect, Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of ... ORPHA:776
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Short 5th finger, A... ORPHA:52056
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Hypertension, Reduced hematocrit ORPHA:79126
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Sinusitis, Transient ischemic attack, Eosinophilia, Abnormal pericardium ... ORPHA:183
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
Fg Syndrome Type 1
Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Malrotation of col... ORPHA:93932
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis ORPHA:134
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, High ... OMIM:618142
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... OMIM:619472
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Hyposegmentation of neutrop... OMIM:620075
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Noonan Syndrome 4
Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Wide mouth, Thick ver... OMIM:610733
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pu... ORPHA:555874
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Deep philtrum, Patent ductus art... ORPHA:397709
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
Noonan Syndrome 8
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut... OMIM:615355
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Small for g... ORPHA:699
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short neck, Micrognathia, High, narrow palat... OMIM:158170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Short... ORPHA:261537
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis OMIM:128100
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Abnormal cerebral vascular morphology, Micromelia, Vascular dilatation, Pre... ORPHA:2637
Afibrinogenemia, Congenital
Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrha... OMIM:202400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Short... ORPHA:261552
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Pancre... OMIM:602782
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low... OMIM:618950
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Anemia, Edema ORPHA:329971
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... ORPHA:261183
Gaucher Disease, Type Ii
Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Trismus, Anemia, Thrombocytopenia OMIM:230900
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... OMIM:300963
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velop... ORPHA:363444
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Pericardial effusion, Mediastinal lymphadenopathy, Diffuse a... ORPHA:199241
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Pancytopenia, Atrial septal defect, Hepatomegaly, Dextrocardia, Megalob... OMIM:277380
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Contractural Arachnodactyly, Congenital
Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Shor... OMIM:121050
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Asplenia, Cleft hard palate, Widel... ORPHA:2152
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... ORPHA:329224
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a... ORPHA:2001
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narro... ORPHA:398156
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, P... OMIM:619149
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothy... OMIM:601005
Sifrim-Hitz-Weiss Syndrome