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
Ventricular septal defect, Cleft palate, Intestinal malrotation, Patent ductus arteriosus, Downtu... ORPHA:457193
Arboleda-Tham Syndrome
Ventricular septal defect, Wide mouth, Short philtrum, Mandibular prognathia, Patent ductus arter... OMIM:616268

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventricle, Right ao... OMIM:231060
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, High palate, Ventricular septal defect, Long philtrum, Torticollis, Hyp... OMIM:617022
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Double outlet right ... OMIM:306955
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Microphthalmia, Syndromic 9
Micrognathia, Ventricular septal defect, Truncus arteriosus, Hypoplastic left atrium, Coarctation... OMIM:601186
Catel-Manzke Syndrome
Dextrocardia, Micrognathia, Cleft palate, High palate, Ventricular septal defect, Cleft upper lip... OMIM:616145
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Hypoglossia With Situs Inversus
Hypodontia, Micrognathia, High palate, Asplenia, Situs inversus totalis, Microglossia, Narrow mou... OMIM:612776
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... ORPHA:3304
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... OMIM:615415
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Micrognathia, Cleft palate, Smooth philtrum, Ventricular septal defect, ... ORPHA:1727
Scimitar Syndrome
Abnormality of the vertebral column, Left-to-right shunt, Truncus arteriosus, Mitral atresia, Sin... ORPHA:185
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Annular pancre... ORPHA:210122
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydra... ORPHA:163596
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, Neonatal death... OMIM:265380
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, Neutropenia, High palate, Leukopenia, Monocytosis, Mitral regurgitati... OMIM:612541
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Absence of the sacrum, Patent ductus arteriosus, Dextrocardia... OMIM:270100
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Cleft palate, Abdominal situs inversus, Ventricular septal defect, Asplenia, Atriov... OMIM:619123
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Abnormal heart morphology, Abnormality of the ... ORPHA:294975
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Hypoplastic scapulae, Cleft... OMIM:308050
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Hypo... OMIM:300400
Mosaic Trisomy 9
Dextrocardia, Micrognathia, Cleft palate, High palate, Ventricular septal defect, Asplenia, Hemiv... ORPHA:99776
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrial ... OMIM:601927
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal form of t... ORPHA:1354
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Platyspon... OMIM:102700
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Third degree at... ORPHA:40366
Primary Ciliary Dyskinesia
Asplenia, Persistent left superior vena cava, Double outlet right ventricle, Situs inversus total... ORPHA:244
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft palate, Ventricular septal defect, Increased mean corpuscu... OMIM:612561
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenom... ORPHA:101028
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Vertebral segmentation defect, Duodenal atresia, Phocomelia ORPHA:3004
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... ORPHA:848
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Double Outlet Right Ventricle
Hypoparathyroidism, Cleft palate, Truncus arteriosus, Ventricular septal defect, Submucous cleft ... ORPHA:3426
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Hypertension, Asplenia, Coombs-positive hemolytic anemia, Lymphaden... OMIM:614034
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Oral ulcer, Absent tonsils, Lymph node hypoplasia OMIM:602450
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Monosomy 22
High palate, Hypochromic microcytic anemia, Long philtrum, Thin vermilion border, Aplasia of the ... ORPHA:96123
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Abnormal aortic arch morphology, Mandibular prognathia, Hypoplasia of the zygomati... ORPHA:1110
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... ORPHA:477817
Velocardiofacial Syndrome
Interrupted aortic arch, Hypoparathyroidism, Cleft palate, Ventricular septal defect, Pierre-Robi... OMIM:192430
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Double outlet right ventricle, Situs inversus totali... OMIM:605376
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Hepatic fibrosis, Short philtrum, Wide m... OMIM:606003
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation,... OMIM:243150
Evans Syndrome
Syncope, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune t... ORPHA:1959
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly ORPHA:75563
Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopat... ORPHA:83471
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Esophageal ... ORPHA:95430
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia OMIM:601086
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Intracranial hemorrhage, Short ... ORPHA:163979
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Meckel Syndrome, Type 1
Cleft palate, Patent ductus arteriosus, Splenomegaly, Accessory spleen, Adrenal hypoplasia, Vascu... OMIM:249000
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Pallor, ... ORPHA:824
Diabetic Embryopathy
Abnormal aortic morphology, Cleft palate, Ventricular septal defect, Transposition of the great a... ORPHA:1926
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Ventricular septal defect, Malar flattening, Glossoptosis, Atrial sep... ORPHA:1388
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Hand oligodactyly, Asplenia, Phocomelia, Splenogonadal fusio... OMIM:156810
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Micrognathia, Cleft palate, Ventricular septal defect, Abnormality of... ORPHA:1166
Beta-Thalassemia Intermedia
Splenomegaly, Hepatosplenomegaly, Pallor, Skin ulcer, Jaundice, Anemia of inadequate production, ... ORPHA:231222
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Transposition of the great arteries, Everted lower lip vermilion, Open ... OMIM:616789
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... ORPHA:99050
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Craniofacioskeletal Syndrome
Interrupted aortic arch, Micrognathia, Cleft palate, Ventricular septal defect, Short philtrum, H... OMIM:300712
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Pulm... OMIM:617877
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Failure to thrive, Lymphopenia, T lymphocytopenia, Absence of ... ORPHA:277
Sweeney-Cox Syndrome
Micrognathia, Cleft palate, Short clavicles, High palate, Asplenia, Short philtrum, Anal atresia,... OMIM:617746
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Thick lower lip vermilion, High, narrow palate, Ventricular septal defec... OMIM:616920
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Abnormal... ORPHA:290
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity,... ORPHA:3226
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Apert Syndrome
Pyloric stenosis, Cervical C5/C6 vertebrae fusion, Cleft palate, Ventricular septal defect, Ectop... OMIM:101200
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Short philtrum, Sacral dimple... OMIM:608227
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Coarctation of aorta, Thin vermilion border, Patent ductus arteriosu... OMIM:615502
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Micrognathia, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, In... OMIM:214110
Stormorken Syndrome
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Thrombocytopenia OMIM:185070
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedu... ORPHA:822
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Noonan Syndrome 12
Spinal canal stenosis, Ventricular septal defect, Anteriorly placed anus, Supravalvular aortic st... OMIM:618624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Autoimmune Hemolytic Anemia
Hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor, Arrhythmia, Abnormal leukocyte ... ORPHA:98375
Digeorge Syndrome
Interrupted aortic arch, High, narrow palate, Micrognathia, Cleft palate, Truncus arteriosus, Hig... OMIM:188400
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Hypoplasia of the thymus, Patent duc... ORPHA:84064
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, High palate, Atrioventricular canal defe... ORPHA:251071
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... OMIM:609813
Ververi-Brady Syndrome
Smooth philtrum, High palate, Wide mouth, Transposition of the great arteries, Everted lower lip ... OMIM:617982
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Neutropenia, Coarctation of aorta, Anemia, Pulmonary arterial hypertension, Atrial ... OMIM:614857
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th... ORPHA:49827
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Pseudocoarctation of the aorta, Patent... OMIM:604381
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Persistent left... OMIM:608978
Ritscher-Schinzel Syndrome 1
Micrognathia, Cleft palate, Ventricular septal defect, Hemivertebrae, Double outlet right ventric... OMIM:220210
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short 5th metacarpal, Patent ductus arteri... ORPHA:228190
Feingold Syndrome 1
Micrognathia, High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Pate... OMIM:164280
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Elevated hepatic... ORPHA:98870
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Atrial septal defect OMIM:617744
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Double outlet right ventricle... OMIM:179613
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Pulmonary insufficiency, Cleft palate, Short lingual ... ORPHA:2326
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Intermittent th... OMIM:150550
Charge Syndrome
Absent tibia, Cleft palate, Duodenal atresia, Dysplastic tricuspid valve, Decreased response to g... OMIM:214800
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
14Q11.2 Microdeletion Syndrome
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Patent ductus arteriosus, De... ORPHA:261120
Meacham Syndrome
Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Situs inversus totalis,... ORPHA:3097
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Thromboc... OMIM:617021
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Holoprosencephaly 2
Diabetes insipidus, Median cleft lip and palate, Solitary median maxillary central incisor, Singl... OMIM:157170
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae ORPHA:1436
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Mirage Syndrome
Adrenal insufficiency, Leukopenia, Anemia, Decreased body weight, Lymphopenia, Hypergonadotropic ... OMIM:617053
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Paten... OMIM:600001
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hem... ORPHA:90308
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Autoimmune hemolytic anemia ORPHA:90037
Fryns Syndrome
Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic morphology, Micr... ORPHA:2059
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Death in infancy, Glossoptosis, Jaundice OMIM:614876
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... OMIM:240300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal aortic morphology, Micrognathia, Truncus arteriosus, Cleft palate, ... ORPHA:2516
Cold Agglutinin Disease
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Feingold Syndrome Type 1
Interrupted aortic arch, Micrognathia, Short middle phalanx of finger, Tricuspid atresia, Duodena... ORPHA:391641
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... ORPHA:3405
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Failure to thrive, Splenome... OMIM:618534
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Acrodysplasia Scoliosis
Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2956
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
American Trypanosomiasis
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Pallor,... ORPHA:3386
Retinitis Pigmentosa 81
Pallor OMIM:617871
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Retinitis Pigmentosa 60
Pallor OMIM:613983
Wiskott-Aldrich Syndrome
Sinusitis, Inflammation of the large intestine, Neutropenia, Petechiae, Hypoplasia of the thymus,... ORPHA:906
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Gingival bleeding, Right ventricular hypertrophy, Volv... ORPHA:335
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Cleft palate, Hypogonadotropic hypogonadism, Patent duc... OMIM:147770
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Chronic sinusitis, Asplenia, Absent frontal sinuses OMIM:244400
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Williams Syndrome
Carious teeth, Bicuspid aortic valve, Rectal prolapse, Peripheral pulmonary artery stenosis, Abno... ORPHA:904
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, Absent gallb... ORPHA:3186
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Redundant neck skin, Rhizomelia, Anemia, Short ribs, P... ORPHA:1842
Pulmonary Arteriovenous Malformation
Brain abscess, Bacterial endocarditis, Hypoxemia, Telangiectasia, Heart murmur, Iron deficiency a... ORPHA:2038
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmoni... ORPHA:2414
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, High palate, Long philtrum, Patent ductus arteriosus, Short foot, Ankylo... ORPHA:250989
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Death in infancy, Thin vermilion border, Cardiomyopathy, Splenomegaly... OMIM:608540
22Q11.2 Deletion Syndrome
Carious teeth, Cleft palate, Truncus arteriosus, Hypoplasia of the thymus, Abnormal dental enamel... ORPHA:567
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Cleft palate, Cleft upper lip, Coarctation of aorta, Short 5th finger,... OMIM:600987
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Cryptorchidism, Median cleft lip, Oral cleft ORPHA:3434
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231226
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pal... ORPHA:231214
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Diamond-Blackfan Anemia 1
Cleft palate, Neutropenia, Tricuspid stenosis, Hypoplasia of the radius, 11 pairs of ribs, Reticu... OMIM:105650
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Treacher-Collins Syndrome
Abnormality of the vertebral column, Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, ... ORPHA:861
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Autoimmune hemolytic anemia, Congestive he... ORPHA:90033
Emanuel Syndrome
Micrognathia, Cleft palate, Truncus arteriosus, High palate, Ventricular septal defect, Long phil... OMIM:609029
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Irregular vertebral endpla... OMIM:616651
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... OMIM:612946
Pseudoaminopterin Syndrome
Micrognathia, High palate, Microdontia, Asplenia, Short philtrum, Sacrococcygeal pilonidal abnorm... ORPHA:221120
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Tracheoesophageal fistula, An... OMIM:314390
Phaver Syndrome
Ventricular septal defect, Butterfly vertebrae, Myelomeningocele, Abnormal form of the vertebral ... ORPHA:2876
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Short finger OMIM:302000
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
3C Syndrome
Death in infancy, Cleft palate, Adrenal hypoplasia, Aortic valve stenosis, Micrognathia, Ventricu... ORPHA:7
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism OMIM:617577
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... ORPHA:2306
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Central retinal vessel vascular tortuosity, Bifid uvula ORPHA:506353
Li-Campeau Syndrome
Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Hypothy... OMIM:619189
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276556
Kagami-Ogata Syndrome
Hepatomegaly, Micrognathia, Ventricular septal defect, Long philtrum, Limb undergrowth, Kyphoscol... OMIM:608149
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Focal pancreatic islet hyperplasia, Palpitati... ORPHA:276575
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Patent ductus arterios... OMIM:618316
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Mitral regurgitation, Kyphosis, Atrial septal defect, T... OMIM:603387
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... OMIM:269200
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Mitral regurgitation, Mandibular prognathia, Aortic root aneurysm, Kypho... ORPHA:404443
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Cleft palate, Hemivertebrae, Double outlet right ventricle, Webbed neck, Decr... OMIM:618223
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Optic Atrophy 9
Pallor OMIM:616289
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Umbilical hernia, Cryptorchidism ORPHA:1918
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Holt-Oram Syndrome
Abnormal aortic morphology, Ventricular septal defect, Phocomelia, Atrioventricular canal defect,... ORPHA:392
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, ... ORPHA:86839
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Syncope, Normochromic ... ORPHA:98849
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Duodenal atresia, Abnormal vertebral morphology, Bil... OMIM:300514
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Ventricular sept... OMIM:169400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... ORPHA:1120
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Death in infancy, Inflammation of the large intestine, E... OMIM:614576
Thoracoabdominal Syndrome
Ectopia cordis, Cleft palate, Cleft upper lip, Patent ductus arteriosus, Transposition of the gre... OMIM:313850
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Malar flattening, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, Apl... ORPHA:52056
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Short philtrum, Abnormal heart morphology, Kyphosis, Atrial septal defect, Narrow m... ORPHA:352490
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Micrognathia, High palate, Ventricular septal defect, Palmoplantar c... OMIM:605275
Mcdonough Syndrome
Micrognathia, Ventricular septal defect, Short philtrum, Mandibular prognathia, Kyphoscoliosis, F... OMIM:248950
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Carpenter Syndrome 1
Ventricular septal defect, High palate, Patent ductus arteriosus, Pulmonic stenosis, Transpositio... OMIM:201000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Widely spaced teeth, Thick lower lip vermilion, Acute lymphoblastic leukemia, Cleft palate, Hypop... OMIM:280000
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, ... ORPHA:33226
Distal Tetrasomy 15Q
Micrognathia, High palate, Abnormal heart morphology, Patent ductus arteriosus, Kyphosis, Atrial ... ORPHA:314588
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276580
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Pallor, He... ORPHA:99931
Eisenmenger Syndrome
Brain abscess, Right ventricular failure, Left-to-right shunt, Syncope, Ventricular arrhythmia, P... ORPHA:97214
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Right bundle branch block, Cardiomeg... ORPHA:439
Thakker-Donnai Syndrome
Ventricular septal defect, Rectovaginal fistula, Anal atresia, Transposition of the great arterie... ORPHA:1780
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent du... ORPHA:363705
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Peripheral Cone Dystrophy
Pallor OMIM:609021
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Scoliosis, Fused cervical vertebrae OMIM:309620
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Left... OMIM:618619
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Atrial septal defect ORPHA:51208
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Anal atresia, Atrial septal defect, Overr... OMIM:309801
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Smooth philtrum, Redundant neck skin, Cardiomegaly, Patent ductus arte... OMIM:618652
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Blackfan-Diamond Anemia
Neutropenia, Normochromic anemia, Erythroid hypoplasia, Cleft lip, Reticulocytopenia, Micrognathi... ORPHA:124
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Micrognathia, Cleft palate, Ventricular septal defect, Sho... ORPHA:435638
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Micrognathia, Redundant neck skin, Death in infancy, Cl... OMIM:235255
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Shashi-Pena Syndrome
Atrial septal defect, Scoliosis, Retrognathia, Kyphosis OMIM:617190
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteri... OMIM:617506
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Hepatic steatosis, Atrial septal defect... OMIM:614300
8P11.2 Deletion Syndrome
Hemolytic anemia, Micrognathia, High palate, Mitral valve prolapse, Hypogonadotropic hypogonadism... ORPHA:251066
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Dystonia 31
Abnormal posturing OMIM:619565
Meckel Syndrome
Micrognathia, Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Situs invers... ORPHA:564
Tarp Syndrome
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Pierre-Robin sequence, Persistent left sup... ORPHA:2886
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Short philtrum, Patent ductus arteriosus, Protruding tongue, Broad nec... OMIM:300963
Alg3-Cdg
High palate, Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Abnorma... ORPHA:79321
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Perlman Syndrome
Interrupted aortic arch, Micrognathia, Long upper lip, Volvulus, Distal ileal atresia, Pancreatic... OMIM:267000
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Ventricular septal defect, High palate, Coarctation of aorta, Intestinal malrotati... OMIM:617602
20Q13.33 Microdeletion Syndrome
Short lower limbs, Abnormal cardiac ventricle morphology, Smooth philtrum, Thin vermilion border,... ORPHA:261311
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Neutropenia, Leukopenia, Macroglossia, Low posterior h... OMIM:617303
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Mesomelia, Hypoplasi... OMIM:228940
Primary Pulmonary Hypoplasia
Dextrocardia, Hypoxemia, Micrognathia, Cleft palate, Cyanosis, Patellar hypoplasia, Secundum atri... ORPHA:2257
Alagille Syndrome
Hepatomegaly, Micrognathia, Ventricular septal defect, Hypertension, Short philtrum, Peripheral p... ORPHA:52
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Pentalogy Of Cantrell
Ventricular septal defect, Cleft palate, Polysplenia, Aplasia/Hypoplasia of the radius, Absent ga... ORPHA:1335
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Recombinant 8 Syndrome
Micrognathia, Cleft palate, Patellar aplasia, Ventricular septal defect, Cleft upper lip, Abnorma... ORPHA:96167
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Long philtrum, Pulmonic stenosis, Tetralogy of ... ORPHA:251076
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure ORPHA:91130
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Te... OMIM:300887
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Left-to-right shunt, Smooth philtrum, Abnormal heart morphology, Velopharyngeal in... ORPHA:363444
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Edema, Anemia, Tachycardia, Bradycardia, Sple... ORPHA:90051
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hepatomegaly, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ... ORPHA:17
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae OMIM:214300
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mou... OMIM:619110
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Charge Syndrome
Interrupted aortic arch, Cleft palate, Hemivertebrae, Cleft upper lip, Abnormal aortic valve morp... ORPHA:138
Monosomy 18Q
Left-to-right shunt, Patent ductus arteriosus, Aortic valve stenosis, Left aortic arch with right... ORPHA:1600
Down Syndrome
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, M... OMIM:190685
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Phocomelia, Bilateral radial aplasia, Malar flattening, Hepatosplenomegaly, Eos... OMIM:274000
Lujan-Fryns Syndrome
Macroorchidism, Micrognathia, High palate, Short philtrum, Abnormality of the dentition, Atrial s... ORPHA:776
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Syncope, Palpitations, Tachycardia, Pallor ORPHA:324575
Chime Syndrome
Hypodontia, Cleft palate, Ventricular septal defect, Microdontia, Short philtrum, Acute leukemia,... ORPHA:3474
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Cleft palate, Neutropenia, Increased mean corpuscul... OMIM:612562
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... OMIM:616898
Myelofibrosis
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Lambert Syndrome
Ventricular septal defect, Wide mouth, Intrahepatic biliary atresia, Malar flattening, Branchial ... ORPHA:1296
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Microdontia, Cardiomegaly, Bradycardia, Patent ... OMIM:601005
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Short philtrum, Mitral regurgitation, Aortic root aneurysm, Atrial sep... OMIM:301039
Emanuel Syndrome
Redundant neck skin, Truncus arteriosus, Cleft palate, Broad jaw, Patent ductus arteriosus, Delay... ORPHA:96170
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Zimmermann-Laband Syndrome 1
Thick lower lip vermilion, Hepatomegaly, High palate, Short distal phalanx of toe, Mandibular pro... OMIM:135500
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Death in infancy, Malar flattening, Atrial septal defect, Narrow mouth ORPHA:93946
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:208900
Distal Monosomy 15Q
Bicuspid aortic valve, Cleft palate, Decreased serum insulin-like growth factor 1, Mitral atresia... ORPHA:1596
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Chromosome 18Q Deletion Syndrome
Cleft palate, Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Aortic valve ... OMIM:601808
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Cleft palate, Ectopic anus, Abnor... ORPHA:2345
Burn-Mckeown Syndrome
Micrognathia, Cleft palate, Ventricular septal defect, Short philtrum, Mandibular prognathia, Cle... OMIM:608572
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
High palate, Long philtrum, Macroglossia, Spinal deformities, Kyphoscoliosis, Patent ductus arter... ORPHA:397709
Diamond-Blackfan Anemia 10
Macrocytic anemia, Micrognathia, Cleft palate, Ventricular septal defect, Anemia, Malar flattenin... OMIM:613309
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Macroglossia, Bifid uvula, ... OMIM:612938
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Pulmonary arterial hyp... ORPHA:2396
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Butterfly vertebrae, Coronal cleft vertebrae, Long philtrum, Patent du... OMIM:618870
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism, Atrial septal defect DECIPHER:39
Filippi Syndrome
Hypodontia, Ventricular septal defect, Short philtrum, Microdontia, Thin vermilion border, Abnorm... OMIM:272440
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Mitral regurgita... OMIM:615355
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Ogden Syndrome
Premature ventricular contraction, Everted upper lip vermilion, High palate, Ventricular septal d... OMIM:300855
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia, Micromelia OMIM:273680
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micrognathia, High palate, Ventricular septal defect, Patent ductus arteriosus, Atrial septal def... OMIM:618142
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula, Patent ductus arteriosus OMIM:618658
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor, Tachycardia ORPHA:276608
Optic Atrophy 1
Pallor OMIM:165500
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Petechiae, Multiple gastric polyps, Erythema, Cardiomyopathy, S... OMIM:225750
Fg Syndrome Type 1
Pyloric stenosis, Malar flattening, Umbilical hernia, Micrognathia, High palate, Long philtrum, F... ORPHA:93932
Hamamy Syndrome
Micrognathia, Smooth philtrum, High palate, Hypodontia, Wide mouth, Long philtrum, Hypoparathyroi... OMIM:611174
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Wide mouth, Webbed neck, Pulmonic stenosi... OMIM:610733
Mental Retardation, Buenos Aires Type
Carious teeth, High palate, Wide mouth, Intrahepatic biliary atresia, Mandibular prognathia, Atri... OMIM:249630
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Atrial septal d... OMIM:618974
Trisomy 13
High, narrow palate, Ventricular septal defect, Cleft palate, Long philtrum, Malar flattening, Cy... ORPHA:3378
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulatio... ORPHA:20
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, High palate, Mitral valve prolapse, Palmo... OMIM:616564
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortuous cere... OMIM:619472
Hardikar Syndrome
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... OMIM:301068
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia OMIM:612527
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Methemoglobinemia, Tachycardia, Cyanosis, Arrhythmia ORPHA:464453
Chromosome 9P Deletion Syndrome
High, narrow palate, Micrognathia, High palate, Ventricular septal defect, Long philtrum, Malar f... OMIM:158170
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal ma... ORPHA:436252
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Retinitis Pigmentosa 70
Pallor OMIM:615922
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Short distal phalanx of toe, Cervical ver... ORPHA:79345
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Pancreatic hypoplasia, Lymphadenopathy, Patent ductus arteriosus, Splenome... OMIM:602782
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, High palate, Micrognathia, Short philtrum, Ventricular septal d... OMIM:309520
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Redundant neck skin, Hypoplastic nipples, Short ribs, Hepatosplenomegaly,... ORPHA:96334
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Autoimmune hemolytic anemia ORPHA:90036
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Endocarditis, Malabsorption, R... ORPHA:183
Asbestos Intoxication
Cor pulmonale, Hypoxemia, Right ventricular failure, Mediastinal lymphadenopathy, Cyanosis, Myoca... ORPHA:2302
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Short philtrum, Ectopic anus, Mandibular prognathia, Mal... ORPHA:94066
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Diastema, Wide mouth, Patent d... ORPHA:329224
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Hypoxemia, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrop... ORPHA:555874
Acrocardiofacial Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Cleft upper lip, C... ORPHA:2008
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Mediastinal lymphadenopathy, Pericardial effusion, Lymphade... ORPHA:199241
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Ventricular septal defect, Smooth philtrum, High palate, Wide mouth, L... OMIM:618950
Insulin-Like Growth Factor I, Resistance To
Micrognathia, Smooth philtrum, High palate, Ventricular septal defect, Increased serum insulin-li... OMIM:270450
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Neutropenia, Decreased response to growth hormone stimulation test, Bo... OMIM:609053
Chromosome 14Q11-Q22 Deletion Syndrome
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Na... OMIM:613457
Acute Interstitial Pneumonia
Reduced hematocrit, Hypoxemia, Hypertension, Pericardial effusion, Lymphadenopathy, Cyanosis ORPHA:79126
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Potocki-Lupski Syndrome
Micrognathia, Smooth philtrum, High palate, Wide mouth, Mandibular prognathia, Atrial septal defe... OMIM:610883
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Ventricular septal defect, Total anomalous pulmonary venous return, A... ORPHA:261183
De Barsy Syndrome
Ventricular septal defect, High palate, Persistent left superior vena cava, Excessive wrinkled sk... ORPHA:2962
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Delayed eruption of teeth, Aortic valve st... ORPHA:261537
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Midclavic... ORPHA:79076
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Abnormality of the dentition, Micrognathia OMIM:616901
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft palate, Smooth philtrum, High palate, Mitral regurgitation, Clef... OMIM:615582
Zechi-Ceide Syndrome
Cleft palate, Short philtrum, Oligodontia, Mandibular prognathia, Short metatarsal, Abnormal hear... ORPHA:217017
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Patent ductus arteriosus, Delayed eruption... ORPHA:261552
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Robinow Syndrome
Broad alveolar ridges, Triangular mouth, Umbilical hernia, Micrognathia, Hypodontia, Ventricular ... ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Microdontia, Anemia, Patent ductus arteriosus, Precocious puberty, Atrial septal defect, Vascular... ORPHA:2637
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth ORPHA:2901
Prune Belly Syndrome
Ventricular septal defect, Volvulus, Patent ductus arteriosus, Anal atresia, Intestinal atresia, ... ORPHA:2970
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormality of the anterior pituitary, Long philtrum, Posterior pituit... ORPHA:75389
Beta-Ketothiolase Deficiency
Leukocytosis, Hepatomegaly, Thrombocytosis, Hypertension, Edema, Pallor, Dehydration, Hypotension ORPHA:134
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Chromosome 10Q26 Deletion Syndrome
Micrognathia, Long philtrum, Webbed neck, Patent ductus arteriosus, Atrial septal defect, Thin up... OMIM:609625
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia ORPHA:255241
Pearson Syndrome
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Neutropenia, Small for gestational age, ... ORPHA:699
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Cleft palate, Malar flattening, Atrial septal defect, Short toe, Cryp... ORPHA:921
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Scoliosis, Fused cervical vertebrae OMIM:618469
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus, Webbed neck, Short distal phalanx of... OMIM:601355
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Hamartoma of tongue, Subvalvular ao... OMIM:217085
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Abnormal aortic morphology, Micrognathia, Patent ductus arteriosu... ORPHA:2001
Microphthalmia, Syndromic 12
Micrognathia, Hypoplastic left atrium, Ventricular septal defect, Retrognathia, Cryptorchidism OMIM:615524
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Mowat-Wilson Syndrome
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Patent ductus arteriosus, Delayed eruption... ORPHA:2152
Familial Thoracic Aortic Aneurysm And Aortic Dissection