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Gene: Kat6a MGI:2442415

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
K(lysine) acetyltransferase 6A
Synonyms:
Zfp220,  MOZ,  Myst3,  9930021N24Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kat6a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... OMIM:617159
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Micrognathia, ... OMIM:145420
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... ORPHA:1507
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricular block, Ab... ORPHA:371428
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Ventricular septal defect, Cleft... OMIM:615582
Noonan Syndrome 10
Ventricular septal defect, Short neck, Cryptorchidism, Increased nuchal translucency, Patent duct... OMIM:616564
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Reticulocyt... OMIM:613309
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th... OMIM:608572
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Atrial septal defect, Dental crowding, Ventricular septal defect, Micro... OMIM:309520
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Pulmonary arterial hypertension, Te... OMIM:300887
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Coffin-Siris Syndrome 6
Kyphoscoliosis, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, A... OMIM:617808
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno... ORPHA:3260
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Abs... OMIM:609053
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Prune Belly Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Vert... ORPHA:2970
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... ORPHA:97360
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Atrial septal defect, Micrognathia, Precocious puberty, Delayed erup... OMIM:619356
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, High, narrow palate, Rectal ... ORPHA:79076
Lateral Meningocele Syndrome
Vertebral fusion, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Short neck, ... OMIM:130720
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... ORPHA:2712
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... ORPHA:485405
Acrocardiofacial Syndrome
Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cleft upper lip, C... ORPHA:2008
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Kyphosis, Pat... OMIM:617061
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar... OMIM:220500
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Death in infancy, ... OMIM:274000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Zechi-Ceide Syndrome
Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down... ORPHA:217017
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... OMIM:619142
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Cutis marmorata, Ventricular septal defect, Smooth philtrum OMIM:602501
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Tetraamelia Syndrome 1
Cleft upper lip, Asplenia, Micrognathia, Cleft palate, Adrenal gland agenesis, Tetraamelia, Anal ... OMIM:273395
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... ORPHA:228399
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Malar flattening, Cleft u... OMIM:612582
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Fused cervical vertebrae, Scoliosis, Short neck OMIM:618469
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu... ORPHA:500159
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Short lingual frenulum, Dental crowding, Myocardial infarcti... ORPHA:740
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... OMIM:614921
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Even-Plus Syndrome
Short neck, Vertebral clefting, Coronal cleft vertebrae, High palate, Hypodontia, Atrial septal d... OMIM:616854
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Diabetes mellitus, Ventricular sep... OMIM:270450
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ... OMIM:615279
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus, Short ... OMIM:601355
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Megarectum, Abnorma... OMIM:301056
Stankiewicz-Isidor Syndrome
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Cryptorchidism, Patent duct... OMIM:617516
19P13.12 Microdeletion Syndrome
Short palm, Aortic regurgitation, Ventricular septal defect, Short neck, Precocious puberty, Cryp... ORPHA:254346
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Gm1 Gangliosidosis
Mandibular prognathia, Ventricular septal defect, Hyperlordosis, Splenomegaly, Patent ductus arte... ORPHA:354
Noonan Syndrome 11
Thick vermilion border, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hypertr... OMIM:618499
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... ORPHA:391487
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... ORPHA:284169
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect,... ORPHA:1908
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage, Thrombocytopenia ORPHA:49566
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Cleft palat... OMIM:615102
Abruzzo-Erickson Syndrome
Cryptorchidism, Short toe, Cleft palate, Atrial septal defect, Malar flattening, Abnormal palate ... ORPHA:921
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... OMIM:241310
Frontoocular Syndrome
Micrognathia, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect OMIM:605321
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Kyphoscoliosis, Patent ductus arteriosus, Limb undergrowth, High palate, Neutropenia, Atrial sept... OMIM:618005
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Short neck, Cleft ... OMIM:617925
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... OMIM:615009
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Leukopenia, Thoracic kyphosis, Atrial septal defect, Patent foramen ovale, Tricuspid ... ORPHA:505248
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... OMIM:603467
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Thrombocytopenia, Cryptorchidism, Dilated cardiomyopathy... ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... OMIM:300998
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Torticollis, Ventricular septal defect, High, nar... ORPHA:276432
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short palm, Atrial sep... OMIM:235510
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Micrognathia, ... ORPHA:452
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... OMIM:618021
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Death in infancy, Protruding tongue, Short neck, Splenomegaly, Secundum atrial sept... OMIM:608779
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ... OMIM:616894
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Dental crowding, Abnormal... ORPHA:230851
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Noonan Syndrome 9
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... OMIM:616559
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, H... ORPHA:453499
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Short neck, Downturned corners of mouth, Pla... ORPHA:93267
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Microdontia, Hypo... OMIM:620005
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, H... OMIM:617452
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Micromelia, Short neck, Cleft ma... ORPHA:508488
High Altitude Pulmonary Edema
Hypoxemia, Leukocytosis, Cyanosis, Tachycardia ORPHA:330012
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Narrow mouth, Atrial septal defect, Ma... ORPHA:261295
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... OMIM:618506
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... OMIM:610759
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Maternal diabetes, Cyanosis... ORPHA:1199
Temple-Baraitser Syndrome
Downturned corners of mouth, Wide mouth, Thick vermilion border, Pulmonic stenosis, Long philtrum... OMIM:611816
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Micrognathia, Short neck, Short thumb, Short 5th finger, Long philtrum, Patent forame... OMIM:618821
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Vasculitis, Eryth... ORPHA:343
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Ventricular septal defect... ORPHA:137675
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Noonan Syndrome 13
Atrial septal defect, Short neck, Micrognathia, Cryptorchidism, Low posterior hairline, Wide mout... OMIM:619087
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... OMIM:619542
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Cleft upper li... OMIM:610443
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroidism, Iro... ORPHA:1667
Sandifer Syndrome
Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Spina bifida occ... OMIM:135500
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... OMIM:612863
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Dilation of Virchow-R... OMIM:619720
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth ORPHA:3469
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... ORPHA:46627
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Short neck, Cleft upper lip, Cryptorchidism, P... OMIM:244300
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis ORPHA:357225
Microphthalmia, Syndromic 2
Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Persistence of prima... OMIM:300166
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... OMIM:603909
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ... ORPHA:261190
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Secundum atrial septal defect OMIM:223350
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... ORPHA:1923
Wiedemann-Rautenstrauch Syndrome
Short neck, Secundum atrial septal defect, Micrognathia, Downturned corners of mouth, Hypoplasia ... OMIM:264090
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... ORPHA:404440
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Opitz Gbbb Syndrome
Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ov... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Recessive 79
Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Vici Syndrome
Atrial septal defect, Everted upper lip vermilion, Median cleft lip, Left ventricular hypertrophy... OMIM:242840
Short-Rib Thoracic Dysplasia 12
Short neck, Lobulated tongue, Short palm, Neonatal death, Patent foramen ovale, Hepatomegaly, Ham... OMIM:269860
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hyperten... OMIM:613870
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... ORPHA:457193
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Micrognathia, A... OMIM:115470
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, H... ORPHA:505237
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent aphthous stomatitis, Recurr... OMIM:614868
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Noonan Syndrome 5
Mandibular prognathia, Short neck, Cryptorchidism, Wide mouth, Thick vermilion border, Pulmonic s... OMIM:611553
Snijders Blok-Campeau Syndrome
Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Pulmonic... OMIM:618205
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Kyphoscoliosis, Cleft palate, Lobulated tongu... OMIM:614815
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Mosaic Trisomy 16
Single coronary artery origin, Ventricular septal defect, Maternal diabetes, Large placenta, Pate... ORPHA:1708
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Supernumerary nipple, Micrognathia... OMIM:619951
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Orofacial cleft, Cholestasis, Hepatic fibr... OMIM:615630
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Precocious atherosclerosis, Micrognathia, Premature graying of hair,... ORPHA:280365
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ... OMIM:617168
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Sotos Syndrome
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, High, narrow palate, Pate... OMIM:117550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short nec... ORPHA:1655
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Tetrasomy 9P
Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners of mouth, High pal... ORPHA:3310
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... ORPHA:2847
Poems Syndrome
Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri... ORPHA:2905
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum... OMIM:300855
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... ORPHA:3320
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Ventricular septal defect, Micrognathia, Cryptorchidism, Pier... OMIM:617201
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Short thumb, Cleft palate, Glossoptos... ORPHA:436003
Filippi Syndrome
Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic... OMIM:272440
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Neonatal death OMIM:613730
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Coarctation of aorta... OMIM:300867
Cleft Soft Palate
Cleft soft palate OMIM:119570
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Atr... OMIM:163950
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spa... OMIM:613610
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morp... ORPHA:369891
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula... ORPHA:476126
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Patent ductus ar... ORPHA:2655
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... ORPHA:263455
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular s... OMIM:612474
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Heart murmur, Abnormal heart morphology, Short finger, Acrocyanosis, Decreased te... ORPHA:1867
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Tarp Syndrome
Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, T... OMIM:311900
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Scoliosis, Long philtrum ORPHA:466926
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Pulmonary arterial hyperte... OMIM:616028
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Sacral dimple, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, P... OMIM:605130
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft h... OMIM:619314
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... OMIM:614816
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect OMIM:615981
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Heart block, Cryptor... OMIM:617063
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Myopathy With Extrapyramidal Signs
Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Le... OMIM:615673
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Kyphosis, Increased nuchal translucency, Patent ductus arteriosus, Pla... ORPHA:93274
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Distal 22Q11.2 Microdeletion Syndrome
Short palm, Thin upper lip vermilion, Branchial fistula, Aortic regurgitation, Ventricular septal... ORPHA:261330
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Pat... ORPHA:141127
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteri... OMIM:617397
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect OMIM:616816
Arterial Tortuosity Syndrome
Carotid artery dissection, Micrognathia, High palate, Bifid uvula, Telangiectases of the cheeks, ... OMIM:208050
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricular septal de... ORPHA:464738
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Decreased response to growth ... ORPHA:1896
Larsen Syndrome
Vertebral fusion, Short metacarpal, Ventricular septal defect, Cervical kyphosis, Cleft upper lip... OMIM:150250
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... OMIM:615879
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... OMIM:609192
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Short neck, Micrognathia, ... ORPHA:2789
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess OMIM:241600
Tetrasomy 5P
Redundant neck skin, Cyanosis, Short hallux, Short neck, Micrognathia, Congestive heart failure, ... ORPHA:3309
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Short philtrum, Atrial septal de... OMIM:616938
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... OMIM:267010
Fanconi Anemia
Micrognathia, Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Abnormalit... ORPHA:84
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic... OMIM:106260
Cryptogenic Organizing Pneumonia
Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis ORPHA:1302
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Kleefstra Syndrome
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Hypothyroidism, Pa... ORPHA:293939
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... ORPHA:2519
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Cleft upper lip, Cle... OMIM:609654
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermil... OMIM:619184
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Long philtrum, Abnormality of the anus, Death ... ORPHA:2308
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... OMIM:609942
Alazami Syndrome
Cutis marmorata, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Scolios... ORPHA:319671
Megalencephaly
Macroorchidism, Atrial septal defect, Short neck ORPHA:2477
Al Kaissi Syndrome
Thin upper lip vermilion, Torticollis, Sacral dimple, Macrodontia, High, narrow palate, Small han... OMIM:617694
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Micrognathia, Cyanotic episode, Short neck ORPHA:284417
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Precocious pu... ORPHA:447980
Fetal Alcohol Syndrome
Thin upper lip vermilion, Atrial septal defect, Micrognathia, Non-midline cleft lip, Cleft palate... ORPHA:1915
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:363528
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Widely spaced teeth, Short philt... OMIM:300967
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, High palate, Coronary-pulmonary artery fistula, Micrognathia OMIM:619699
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Facial hyperostosis,... ORPHA:2780
Hajdu-Cheney Syndrome
Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Periodontitis, Par... ORPHA:955
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Precocious puberty, Cryptorchidism, High palate, Short philtrum, Hypog... ORPHA:3306
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Accessory oral frenulum, Hypoplasia of teeth, Mitral regurgitation, Scoliosis, Restrictive cardio... ORPHA:88630
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Tented upper lip vermilion, Congestive heart failure, Wide mouth, Atrial septal defect, Open mout... ORPHA:500533
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... ORPHA:99094
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Kyphosis, Cleft palate, Furrowed tongue, H... OMIM:616449
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal... ORPHA:353281
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion border, High ... OMIM:619869
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... OMIM:113000
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Zaki Syndrome
Sacral dimple, Micrognathia, Patent ductus arteriosus, Wide mouth, Median pseudocleft lip, High p... OMIM:619648
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short neck, Cl... OMIM:300990
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Short neck, High, narrow palate, Vertebral segmentati... ORPHA:373
Chromosome 10Q26 Deletion Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Short neck, Micrognathia, Cryptorchidism, Patent ... OMIM:609625
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent... ORPHA:193
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Ret... ORPHA:79330
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... OMIM:619909
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Atrial septal defect, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Sho... OMIM:245600
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narro... ORPHA:1790
Holoprosencephaly
Short neck, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, Abnormal form of the ve... ORPHA:2162
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Kyphosis, Patent du... OMIM:617190
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... OMIM:261740
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... OMIM:619143
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... OMIM:617635
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladde... ORPHA:349
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Left superior vena cava draining to coronary ... OMIM:611961
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Varicose veins, Scoliosis, Webbed neck, Atrial sept... OMIM:616843
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu... OMIM:600460
Bohring-Opitz Syndrome
Bilateral cleft palate, Sacral dimple, Ventricular septal defect, Intestinal malrotation, Supernu... OMIM:605039
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Bicuspid aortic valve, Ventricular sep... ORPHA:457279
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Crypt... OMIM:616331
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental morpholog... ORPHA:1458
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate, Scoli... ORPHA:52055
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Tricus... OMIM:618460
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Ventric... OMIM:614866
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:453504
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Atrial septal defect, Ventricular septal d... OMIM:614609
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:352665
21Q22.11Q22.12 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Short proximal phalanx of the 5th finger, Sacral dimpl... ORPHA:261323
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa... OMIM:606519
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Atrial septal defect, Patent ... OMIM:614261
Holoprosencephaly 1
Single ventricle, Diabetes insipidus, Adrenal hypoplasia, Median cleft lip and palate OMIM:236100
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Spondylolis... OMIM:613795
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place... OMIM:612289
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Cyanosis, High palate, Scoliosis ORPHA:98913
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... OMIM:174300
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... OMIM:613680
Alagille Syndrome 2
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... OMIM:610205
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... ORPHA:2256
Leopard Syndrome 1
Mandibular prognathia, Bundle branch block, Kyphoscoliosis, Short neck, Delayed menarche, Cryptor... OMIM:151100
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Hypoplastic left heart, Scoliosis, Long philtrum, A... OMIM:619721
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... OMIM:139210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Cardiomegaly, Short neck, Micrognathia, Cleft palate, Pla... OMIM:616897
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Cryptorch... OMIM:616368
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, High palate, Micromelia ORPHA:1035
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, High palate, Atrial septal defect, Patent foramen ovale, ... ORPHA:280633
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... OMIM:250790
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Micrognathia, Increased nuchal translucency, Cleft pa... ORPHA:1052
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
17Q12 Microduplication Syndrome
Atrial septal defect, Abnormal vertebral morphology, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud p... ORPHA:51
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Mitral stenosis, Ventricular septal defect, Cryptorchidism... ORPHA:163956
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventri... OMIM:236680
C Syndrome
Hepatomegaly, Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, M... OMIM:211750
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Anterior concavity of t... OMIM:249420
3Mc Syndrome 1
Conjunctival telangiectasia, Sacral dimple, Dental crowding, Ventricular septal defect, Supernume... OMIM:257920
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... OMIM:301043
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bodi... OMIM:244450
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... OMIM:602535
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Situs inversus totalis, Abno... ORPHA:991
Diamond-Blackfan Anemia 21
Aortic regurgitation, Cutis marmorata, Micrognathia, Secundum atrial septal defect, Erythroid hyp... OMIM:620072
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Secundum atrial septal defect, Congestive heart failure, Patent ductus arterio... OMIM:616866
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... OMIM:616652
Myasthenia Gravis
Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary adrenal ins... ORPHA:589
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Ventricular septal d... ORPHA:79329
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arter... OMIM:614976
Fraser Syndrome 2
Intestinal malrotation, Short neck, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Anal ... OMIM:617666
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Micrognathia, Hyperlordosis, Mitral valve prolapse, Wide mouth, Thick vermilion border, High pala... OMIM:300986
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... OMIM:300472
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... OMIM:227645
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... OMIM:612530
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Low posterior hai... ORPHA:85194
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Poor wound healing, Narrow mouth, Mitral valve prolapse, Mitral regurgitation, H... OMIM:615539
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thic... OMIM:611087
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Sacral dimple, Abnormality of thyroid physiology, Abnormality of the dentition, ... OMIM:300968
Cerebrocostomandibular Syndrome
Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atrial septal defect, Long philt... OMIM:117650
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cleft li... OMIM:618454
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Recurrent sinusitis, Pulmonary arterial hyp... ORPHA:85202
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Atrial septal defect, Redundant neck skin, Short lingual frenulum, Vent... OMIM:617360
17Q23.1Q23.2 Microdeletion Syndrome
Sacral dimple, Patent ductus arteriosus, Patellar hypoplasia, Pulmonary arterial hypertension, Wi... ORPHA:261279
White Forelock With Malformations
Atrial septal defect, Deep philtrum, Spina bifida occulta, Abnormal palate morphology ORPHA:2475
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Splenomegaly, Micro... OMIM:619418
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Esophageal atresia, Coarctation of aorta, Abnormal heart... ORPHA:2209
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate... OMIM:115150
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ... ORPHA:289
Restrictive Dermopathy
Natal tooth, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arterio... ORPHA:1662
Lymphatic Malformation 7
Pericardial effusion, Increased nuchal translucency, Varicose veins, Atrial septal defect, Anemia OMIM:617300
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Retinitis Pigmentosa 51
Pallor OMIM:613464
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Ventricular septal defect, Cutis... ORPHA:96121
Thanatophoric Dysplasia Type 1
Short femur, Micromelia, Abnormal sacroiliac joint morphology, Increased nuchal translucency, Pat... ORPHA:1860
Fryns Syndrome
Tented upper lip vermilion, Ectopic pancreatic tissue, Short neck, Atrial septal defect, Microret... OMIM:229850
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long... OMIM:618529
White-Sutton Syndrome
Mandibular prognathia, Short neck, Micrognathia, Patent ductus arteriosus, Cleft palate, Hypoplas... OMIM:616364
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Galloway-Mowat Syndrome 7
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft... OMIM:618348
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Sp... OMIM:300373
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno... OMIM:614300
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidism, Malar flat... OMIM:218350
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Absent cupid's bow, Abnorma... ORPHA:513456
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
2Q31.1 Microdeletion Syndrome
Short palm, Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Deep philtrum, K... ORPHA:251014
Van Esch-O'Driscoll Syndrome
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... OMIM:301030
Nephrotic Syndrome, Type 11
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... OMIM:616730
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Premature graying of hair, High... ORPHA:769
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Dou... OMIM:614886
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Hyp... OMIM:617660
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Micrognathia, Long neck, Cleft lip, Cryptorchidism, ... ORPHA:1724
Simpson-Golabi-Behmel Syndrome, Type 1
Atrial septal defect, Exaggerated median tongue furrow, Cryptorchidism, Patent ductus arteriosus,... OMIM:312870
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small ... OMIM:617450
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the... OMIM:147920
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... OMIM:175050
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Bile duct proli... OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Crypto... ORPHA:77298
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Scoliosis, Umbilical ... OMIM:617751
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis, Tented upper lip vermilion ORPHA:896
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Atrial septal def... ORPHA:79113
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis ORPHA:348
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Micrognathia, Atrial septal defect, Abnormal vertebra... ORPHA:536471
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Short 4th metacarpal OMIM:113301
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Broad alveolar ridges OMIM:314320
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Micrognathia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal a... ORPHA:261197
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra... ORPHA:217085
Fumarase Deficiency
Polyhydramnios, Intrahepatic cholestasis, Ascites, Pallor, Hepatic failure, Polycythemia OMIM:606812
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Dental malocclusion, Alveola... ORPHA:444072
Zellweger Syndrome
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Malabsorpt... ORPHA:912
Mosaic Trisomy 1
Microretrognathia, Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Increased nuc... ORPHA:1692
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, Ventricular septal defect, High palate ORPHA:3369
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Short neck, Increased size of nasopharyngeal... ORPHA:457395
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Sh... OMIM:620073
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Micrognathia, Cryptorchidism, Triangular mouth, Cleft palate, Short sternum, Pulmonic... OMIM:257300
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricula... ORPHA:79328
Kury-Isidor Syndrome
Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Wi... OMIM:619762
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduc... ORPHA:79284
Degcags Syndrome
Micrognathia, Premature graying of hair, Leukopenia, Iron deficiency anemia, High palate, Atrial ... OMIM:619488
Cog1-Cdg
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short nec... ORPHA:263508
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Intestinal malrotation, Aplastic clavicle, Hiatus ... ORPHA:2538
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Hypertensive crisis, Edema, Myocarditis, Leukocytosis, Hypertens... ORPHA:544482
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Mi... OMIM:620025
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora... ORPHA:508498
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Thick vermilion border, High palate, Short s... OMIM:620113
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe... OMIM:100300
Fibrochondrogenesis 1
Short palm, Hypoplastic scapulae, Rhizomelia, Short neck, Narrow mouth, Small hand, Cleft palate,... OMIM:228520
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Heart murmur, Widely spa... ORPHA:2728
Noonan Syndrome 7
Short neck, Low posterior hairline, Thick vermilion border, Pulmonic stenosis, Webbed neck, Atria... OMIM:613706
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect, Aplastic anemia, Short neck OMIM:610832
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra... ORPHA:217093
Smith-Lemli-Opitz Syndrome
Dental crowding, Micromelia, Micrognathia, Atrial septal defect, Hepatic steatosis, Bifid uvula, ... OMIM:270400
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Kyphosis, Patent ductus arteriosus, Tet... OMIM:153400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Abnorma... ORPHA:3071
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia ORPHA:2772
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Decreased response to growth hormone stimulation test, Supernume... OMIM:213980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Ventricular septal defect, Micrognathia, Death in childhood OMIM:616901
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Precocious pu... OMIM:619312
Desbuquois Syndrome
Small hand, Ventricular septal defect, Scoliosis, Short neck ORPHA:1425
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... ORPHA:353277
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Precocious... ORPHA:369837
Trisomy 1Q
Microretrognathia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased... ORPHA:261344
Lethal Kniest-Like Dysplasia
Mesomelic/rhizomelic limb shortening, Short neck, Cleft palate, Hypoplastic vertebral bodies, Cor... ORPHA:2347
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:620211
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Ventricular septal defect, Lumbar hyperlord... ORPHA:251028
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Tented upper lip vermilion, Thick vermilion border, High palate, Scoliosis, Long ph... OMIM:619383
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... ORPHA:177907
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Webb... ORPHA:881
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale OMIM:616867
Dravet Syndrome
Pallor ORPHA:33069
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Neonatal death, Pulmonary arterial hypertension, Misalignment of the ... OMIM:265120
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Pa... OMIM:600268
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Lymphatic Malformation 13
Patent ductus arteriosus, Hydrocele testis, Mitral regurgitation, Neonatal death, Long philtrum, ... OMIM:620244
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Splenomegaly, Concentric hypertrophic cardiomyopathy, T... OMIM:252010
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Micrognathia, Thyroid agenesis... ORPHA:3047
Neu-Laxova Syndrome 1
Ventricular septal defect, Swollen lip, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:256520
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Meningocele, Cleft palate, ... OMIM:614424
Agnathia-Otocephaly Complex
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr... OMIM:202650
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Micrognathia OMIM:616777
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Ventricular septal defect, Aplasia of ... OMIM:142900
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Micrognathia, Cryptorchidism, P... OMIM:617557
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Restrictive Dermopathy 2
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Short clavicles OMIM:619793
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Con... OMIM:608328
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Thick lower lip vermi... OMIM:618027
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Subvalvular aortic stenosis, Atri... OMIM:613001
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Atrial septal defect, Frontal encephalocele ORPHA:521308
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Dental crowding, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus,... OMIM:618268
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Hypothyroidism OMIM:301058
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Ventricular septal defect, Micrognathia, Abnormality of the endocrine system, C... ORPHA:166035
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Wi... ORPHA:466791
Congenital Myasthenic Syndrome
Microretrognathia, Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Nar... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Nar... ORPHA:98914
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... ORPHA:26793
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... ORPHA:2328
Al-Raqad Syndrome
Atrial septal defect, Thin upper lip vermilion, Narrow mouth OMIM:616459
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... OMIM:618354
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Poor wound healing, Arterial rupture, Scoliosis, Atrial septal defect, Bruising susceptibility OMIM:619115
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Nar... ORPHA:96097
Pituitary Apoplexy
Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Micrognathia, Patent ductus arteriosus, Cleft palate, Hydrocele testis, Thin vermi... OMIM:614080
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Cryptorchidism, Patent ductus a... OMIM:607143
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft... ORPHA:2473
Distal Deletion 6P
Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short f... ORPHA:96125
Cutis Laxa, Autosomal Recessive, Type Iic
Reduced subcutaneous adipose tissue, Mandibular prognathia, Prominent superficial veins, Tricuspi... OMIM:617402
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Kyphoscoliosis, Short neck, Micrognathia, Cryp... OMIM:102500
Adenohypophysitis
Normochromic anemia, Pallor, Orthostatic hypotension ORPHA:95512
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Patent ductus arteriosus, High palate, ... OMIM:618162
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic valve s... ORPHA:459061
Cornelia De Lange Syndrome 1
Micromelia, Short neck, Micrognathia, High, narrow palate, Downturned corners of mouth, Widely sp... OMIM:122470
Distal Deletion 10Q
Thin upper lip vermilion, Lumbar hyperlordosis, Micrognathia, Patent ductus arteriosus, Short met... ORPHA:96148
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, Wide mouth, High palate, Tetralogy of Fallot OMIM:613398
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Wide mouth,... ORPHA:251061
X Small Rings
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Upper lim... ORPHA:96201
Smith-Lemli-Opitz Syndrome
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect, Advanced e... ORPHA:818
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Abnor... OMIM:154400
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... ORPHA:3472
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Cleft palate, High palate, R... OMIM:617164
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... OMIM:225500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Adrenal gland agen... OMIM:611812
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Microcytic anemia, Micrognathia, Sple... OMIM:619525
Mucopolysaccharidosis Type 2
Hepatomegaly, Irregularity of vertebral bodies, Abnormal heart valve morphology, Abnormal pulmona... ORPHA:580
Aase-Smith Syndrome I
Death in infancy, Open mouth, Ventricular septal defect, Cleft palate OMIM:147800
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ... OMIM:610536
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Atrioventricular block, Bradycardia, Long philtrum, Acrocyanosis OMIM:614407
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonar... ORPHA:60025
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Microgna... OMIM:309500
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, Tetralogy of Fallot, High palate OMIM:222765
Hydrolethalus
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, ... ORPHA:2189
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Atrial septal defect, Sacral dimple, Abnormality of the dentition, Cryp... ORPHA:363611
Alg12-Cdg
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Intestinal malrotation, M... ORPHA:79324
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Short neck, Micrognathia, Cryptorchidism, P... OMIM:258315
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... ORPHA:268249
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Micrognathia... OMIM:613457
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Ad... OMIM:214100
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pate... OMIM:619268
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Short philtrum, Death in childhood, Atrial septal defect, P... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Subm... OMIM:619103
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Sacral dimple, Tricuspid regurgitation, Ventricular sep... ORPHA:261337
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Retrognathia, Scoliosis, Thrombocytopenia ORPHA:457351
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Abnormality of the dentition... OMIM:617140
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular s... OMIM:263520
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arteriosu... ORPHA:284984
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular septal defect, Nephrogenic diab... OMIM:613404
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun... OMIM:619991
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,... ORPHA:280
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio... OMIM:277600
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Panhypophysitis
Normochromic anemia, Pallor, Orthostatic hypotension ORPHA:95513
Jacobsen Syndrome
Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Pyloric stenosis, Missing ri... OMIM:147791
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate,... ORPHA:250999
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Thin vermilion border, Atria... OMIM:618109
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hepatoblastoma, C... ORPHA:1465
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Hyperlordosis OMIM:615156
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Cryptorchi... OMIM:600373
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke ORPHA:268943
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Ventricular septal de... OMIM:613458
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Hepatocellular carci... OMIM:118450
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Bicuspid aortic valve, Ventricular septal defect, Kyphoscolio... OMIM:271640
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Diabetes mellitus, Micrognathia, Secundum atrial septal defect, High palate, Hyperplasia of the m... OMIM:620194
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Wolf-Hirschhorn Syndrome
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... OMIM:194190
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Rectal prolapse, Ecchymosis, Acrocyanosis, Prematurel... ORPHA:287
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Anemia of inadequate production ORPHA:91349
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Poly... ORPHA:1770
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:494344
Cooper-Jabs Syndrome
Ventricular septal defect, Missing ribs, Anteriorly placed anus, Scoliosis, Umbilical hernia, Mal... ORPHA:1488
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Micrognathia OMIM:619036
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Prot... OMIM:212066
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Anal stenosis, Short humerus, Aganglionic megacolon, Ventricular septal d... OMIM:607323
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy, Hepatic stea... OMIM:614582
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Secundum atrial septal defect, Downturned corners of mouth, Short philt... OMIM:619121
Femoral-Facial Syndrome
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Ventric... OMIM:134780
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Kyphoscoliosis, Bilateral cryptorch... OMIM:617403
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Cutis marmorata, Secundum atrial septal defect, Wide mouth, Short foot, Hypertension, Median pseu... OMIM:619758
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cr... ORPHA:261236
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Sacral dimple, Ventricular se... ORPHA:459070
Trichothiodystrophy
Ventricular septal defect, Prematurely aged appearance, Hypoplasia of mandible relative to maxill... ORPHA:33364
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Micrognathia, Kyphosis, Myelomeningoce... ORPHA:1393
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Cleft upper lip, Hypoplasia ... OMIM:164210
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Short neck, Cryptorchidism, Submucous cleft hard palate, Low pos... ORPHA:1340
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Narrow mouth OMIM:245552
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hepatomegaly, Death in infancy, Short neck, Micrognathia, Microvesicular he... OMIM:300868
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Desmosterolosis
Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Submucous cleft hard palate, Anom... ORPHA:35107
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t... OMIM:618371
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Elevated hemoglobin A1c, Proge... OMIM:619127
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Paten... OMIM:617088
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L... OMIM:619306
Chronic Pneumonitis Of Infancy
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis ORPHA:91359
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Ectode... ORPHA:363958
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Pulmonic stenosis, Webbed neck, Umbilical hernia, Retrognath... OMIM:618914
Vater/Vacterl Association
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... OMIM:192350
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Abnormality of the liver, Vertebral s... ORPHA:2911
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation OMIM:615476
Frontometaphyseal Dysplasia 2
Short metacarpal, Bicuspid aortic valve, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, ... OMIM:617137
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Cryptorchi... ORPHA:438213
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short ... ORPHA:1519
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Secundum atrial septal ... OMIM:609069
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Anemia ORPHA:667
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the neck, Abnormality of the liver, Hypothyroidism, Hep... ORPHA:1606
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis ORPHA:747
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... OMIM:608670
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Hypopla... OMIM:143095
Oculodentodigital Dysplasia
Atrial septal defect, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Ver... OMIM:164200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Arthrogryposis, Distal, Type 3
Cryptorchidism, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Marfan Syndrome
Dental crowding, Micrognathia, High, narrow palate, Open bite, Dilatation of an abdominal artery,... ORPHA:558
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus, Hypodontia, Microdontia, Malar flattening OMIM:602482
Bent Bone Dysplasia Syndrome 2
Thickened nuchal skin fold, Hepatomegaly, Short neck, Coronal cleft vertebrae, Platyspondyly, Sho... OMIM:620076
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellula... OMIM:227646
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale, Scoliosis OMIM:614961
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Increased overbite OMIM:618504
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cryptorchidism, Patent ductus arteriosus, Cleft soft palate ORPHA:2282
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Shortening of all... OMIM:614207
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis ORPHA:96190
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... OMIM:136140
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Prematurely aged appearance, Poor wound healing,... OMIM:123700
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short neck, Abnormality of the dentition, Secundum atrial septal defect, Low posterior hairline, ... OMIM:615802
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin vermilion borde... ORPHA:217346
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of ... OMIM:615948
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Magel2-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchidism, Kyphosis, Xeros... ORPHA:398069
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Hyperpl... OMIM:268300
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Adrenal hypoplasia, Micrognathia, Congenital ps... OMIM:275210
Distal Deletion 12Q
Short neck, Micrognathia, High, narrow palate, Biliary atresia, Patent foramen ovale, Esophageal ... ORPHA:96149
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Abnormal mitral valve morphology, Wide mouth, Long philtrum, Atrial ... ORPHA:1292
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... ORPHA:69085
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Heart murmur, Anteriorly placed anus, High... OMIM:618653
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Tented upper lip vermilion, Ventricular septal defect, D... ORPHA:488632
Joubert Syndrome 3
Atrial septal defect, Open mouth OMIM:608629
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclu... OMIM:606232
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short neck, Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, A... OMIM:609945
Trisomy 18
Microretrognathia, Ventricular septal defect, Spina bifida, Esophageal atresia, Non-midline cleft... ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Micrognathia, Cleft lip, Patent ductus arteriosu... OMIM:616975
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, ... ORPHA:2369
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Cleft palate, Scoliosis, ... OMIM:178110
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:607598
Oculodentodigital Dysplasia
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho... ORPHA:2710
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Small h... OMIM:619229
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hyperlordosis, Patent foramen... ORPHA:363700
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Aortic root aneurysm, Type II diabetes mellitus, Delayed puberty, At... OMIM:618891
Filippi Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi... ORPHA:3255
Coffin-Siris Syndrome 1
Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Spina bifida occul... OMIM:135900
Focal Dermal Hypoplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida, Abnormality of the d... ORPHA:2092
Cree Mental Retardation Syndrome
Cryptorchidism, Cleft soft palate OMIM:606851
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Shortening of all dis... OMIM:616202
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Microretrognathia, Tricuspid regurg... OMIM:601776
Genitopatellar Syndrome
Delayed eruption of teeth, Short palm, Micrognathia, Cryptorchidism, Patellar aplasia, Long philt... ORPHA:85201
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Short neck, Cryptorchidism, Short met... ORPHA:2896
Retinitis Pigmentosa 75
Pallor OMIM:617023
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Spina bifida, Short neck, Micrognathia, Cryptorchidism, Short thumb, Malar flat... OMIM:304120
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... ORPHA:2729
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Short neck, Micrognathia, Hypoplasia of the maxilla... OMIM:261540
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo... OMIM:206900
Opitz Gbbb Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp... OMIM:300000
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida OMIM:207950
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Atrial septal defect, Dental crowding, Ventricular septal defect, Parti... OMIM:301044
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow... ORPHA:1051
Stickler Syndrome, Type I
Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula OMIM:108300
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Dilation of Virchow-Robin spaces, Exaggerated cupid's bow, Micrognathia, C... OMIM:619512
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Intestinal malrotation ORPHA:2143
Keutel Syndrome
Sinusitis, Ventricular septal defect, Miscarriage, Short hallux, Short thumb, Deep philtrum, Shor... OMIM:245150
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Ventricular septal... ORPHA:2438
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistul... OMIM:300707
Floating-Harbor Syndrome
Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septal defect, Microdo... ORPHA:2044
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Raynaud phenom... ORPHA:48435
3Q29 Microduplication Syndrome
Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,... ORPHA:251038
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Atrial septal defect, Atrioventricula... ORPHA:672
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Webbed ... ORPHA:1439
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Cleft soft palate, Aortic rupture OMIM:614557
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... OMIM:619950
Tay-Sachs Disease
Pallor OMIM:272800
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Short neck, Micrognathia, Pyloric stenosis, Thick... OMIM:218040
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum OMIM:617895
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Hypothyroidism, Patent... OMIM:607872
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Ventricular septal defect ORPHA:79243
W Syndrome
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Pyloric stenosis, ... ORPHA:2461
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Hypoplastic aortic arch, Scoliosis ORPHA:457284
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Hepatoblastoma, Short neck, Splenopancreatic fusion, Macroglossia, Hypop... OMIM:269150
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ... OMIM:154500
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Absent circulating ... OMIM:307200
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... ORPHA:416
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition, Low posterior hairline, ... OMIM:605822
Amish Lethal Microcephaly
Cleft soft palate ORPHA:99742
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect, Thin upper lip vermilion, High palate, Smooth philtrum OMIM:620242
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis OMIM:261680
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, V... OMIM:235730
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia ORPHA:3078
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Teebi-Shaltout Syndrome
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mou... OMIM:272950
Arboleda-Tham Syndrome
Microretrognathia, Thin upper lip vermilion, Atrial septal defect, Mandibular prognathia, Ventric... OMIM:616268
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Short ... ORPHA:464311
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Premature graying of hair, Early onset of sexual maturati... OMIM:194050
Myhre Syndrome
Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnormal lip morpholog... ORPHA:2588
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Protruding tongue OMIM:619580
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Short neck, Micromelia, Aplastic clavicle, Anenceph... OMIM:616546
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Atrial fibrillation, Congestive h... ORPHA:31826
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Thin upper lip vermilion, Long philtrum OMIM:618665
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Short neck, Hypoplasia of... OMIM:609460
Ulnar-Mammary Syndrome
Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Absent hand, Ectopic anus, Breast ap... ORPHA:3138
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Scoliosis, Long philtrum, Patent foramen ovale OMIM:619179
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Short neck, Cryptorchidism, High palate, Pulmoni... OMIM:607721
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of... ORPHA:744
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Death in childhood, Atrial... OMIM:243800
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Native American Myopathy
Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft pala... ORPHA:168572
Childhood Absence Epilepsy
Pallor ORPHA:64280
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Micrognathia, Secundum atrial septal defect, Hyperten... ORPHA:2260
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Scoliosis, Narrow mout... OMIM:618076
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short... ORPHA:434179
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Dextro... OMIM:620305
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Monosomy 13Q34
Epistaxis, Micrognathia, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal periodontium morphology, High palate, Atrial septal defect, Thoracolumbar scoliosis, Cys... ORPHA:480880
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchidism, P... ORPHA:464306
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Distal Deletion 19P
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... ORPHA:96129
Proximal Spinal Muscular Atrophy
Thoracic kyphosis, Bradycardia, Tongue fasciculations, Scoliosis, Atrial septal defect ORPHA:70
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Atrial septal defect, Lumbar hyperlordosis, Transient ischemic attack, Kyphos... ORPHA:500150
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hype... OMIM:610505
Prolactinoma
Pallor, Hypotension ORPHA:2965
Aica-Ribosuria Due To Atic Deficiency
Wide mouth, Thin upper lip vermilion, Secundum atrial septal defect OMIM:608688
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Walker-Warburg Syndrome
Cryptorchidism, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Sotos Syndrome
No permanent dentition, Atrial septal defect, Hypothyroidism, Abnormal vertebral morphology, Flus... ORPHA:821
Orofaciodigital Syndrome Type 4
Decreased testicular size, Median cleft lip, Monorchism, Abnormal oral mucosa morphology, High, n... ORPHA:2753
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, High palate, ... OMIM:614653
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal death, Death in infancy, Cyanosis, Hypoxemia OMIM:610921
Cornelia De Lange Syndrome
Micromelia, Short neck, Micrognathia, Downturned corners of mouth, Widely spaced teeth, High pala... ORPHA:199
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... OMIM:616682
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... ORPHA:268261
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorc... OMIM:613884
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... OMIM:181450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Palpebral edema, Abnormal T cell subset distribution, B lymphocytopenia,... ORPHA:221139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... ORPHA:83617
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, An... ORPHA:506
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, High, narrow palate, Hematochezia, Short philtrum, Peripheral pulmonar... OMIM:619575
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,... OMIM:619841
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insufficiency, Abnormali... ORPHA:285
Dubowitz Syndrome
Hypoparathyroidism, Delayed eruption of teeth, Anal stenosis, Abnormality of neutrophils, Abnorma... ORPHA:235
Pallister-Killian Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Anteriorly placed anus, Short palm, Atrial ... OMIM:601803
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... ORPHA:653
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... OMIM:619475
Coffin-Lowry Syndrome
Mandibular prognathia, Short metacarpal, Cutis marmorata, Kyphosis, Rectal prolapse, Thick lower ... OMIM:303600
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Duode... OMIM:617798
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Bartsocas-Papas Syndrome 1
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Short neck, Bilateral cry... OMIM:263650
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Brain abscess, Lung abscess, Cyanosis OMIM:610910
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Short sternum, Umbilical hernia, Malar flattening OMIM:222448
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Yunis-Varon Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatarsal, Sh... OMIM:216340
Neurofibromatosis-Noonan Syndrome
Short neck, Secundum atrial septal defect, Cryptorchidism, Low posterior hairline, Thick vermilio... OMIM:601321
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short neck, Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, A... ORPHA:99646
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Orthostatic hypotension, Hypogeusia, Hypertension, Scoliosis, Acrocyanosis OMIM:223900
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Thick vermilion border, Short distal p... OMIM:250410
Waardenburg Syndrome, Type 1
Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ... ORPHA:2331
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Leukocytosis, Downturned corners of mouth, Hypoplasia ... OMIM:619321
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... ORPHA:2250
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Malar flattening, Long philtrum OMIM:207410
Branchioskeletogenital Syndrome
Absent nipple, Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cl... ORPHA:1299
Dubowitz Syndrome
Delayed eruption of teeth, Aplastic anemia, Carious teeth, Cryptorchidism, Velopharyngeal insuffi... OMIM:223370
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celi... ORPHA:293987
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Diets-Jongmans Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Wide mouth, Interrupted infe... OMIM:618846
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Carious teeth, Cryptorchidism, Patent ductus arteriosus, Short thumb, ... OMIM:619522
Meier-Gorlin Syndrome 5
Cryptorchidism, Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Aganglionic megacolon, Perianal erythema, Cryptorchidism, Cleft palate, Ectoder... OMIM:308205
Choanal Atresia
Cyanosis, Chronic sinusitis ORPHA:137914
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Myocarditis, Short toe, Platyspondyly... OMIM:250220
Faciocardiomelic Syndrome
Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Long philtrum, Com... OMIM:612731
Neu-Laxova Syndrome
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E... ORPHA:2671
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Short ribs OMIM:615503
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Hypertension, Scoliosis, Ac... ORPHA:1764
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Hypertension, Fused teeth, High palate, Short phi... OMIM:300896
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Scoliosis, Atrial septal defect, Smooth philtrum ORPHA:522077
Coffin-Siris Syndrome 12
Micrognathia, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard ... OMIM:619325
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Small hand, Ven... OMIM:614947
Diphallia
Atrial septal defect, Rectoperineal fistula, Absent thumb, Cryptorchidism, Hemivertebrae, Abnorma... ORPHA:227
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Goodpasture Syndrome
Pallor, Anemia, Pulmonary hemorrhage OMIM:233450
Townes-Brocks Syndrome
Rectoperineal fistula, Abnormal pulmonary valve morphology, Cryptorchidism, Patent ductus arterio... ORPHA:857
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Abnormal paranasal sinus morphology... ORPHA:141099
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Pulmonary arterial hypertension, Cyanosis OMIM:610913
Ear-Patella-Short Stature Syndrome
Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion b... ORPHA:2554
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Leukemia, Thick vermilion border, Long philtrum ORPHA:2526
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Deep philtrum, Thin lower lip ver... OMIM:619194
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor... ORPHA:506358
Doors Syndrome
Thin upper lip vermilion, Adrenal hyperplasia, Short lingual frenulum, Abnormality of the dentiti... ORPHA:79500
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Cryptorchidism, Short thum... ORPHA:477993
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Cryptorchidism, High, narrow palate, Submucous cleft hard pala... ORPHA:2658
Genitopatellar Syndrome
Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Micrognathia, Cryptorchidism... OMIM:606170
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Pancreatitis OMIM:619471
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Increased intervertebral space, Thick lower lip vermilion, Platyspondy... OMIM:619727
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus, Chalazion, Scolio... OMIM:613355
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Short metatarsal... OMIM:107480
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Natal tooth, Thin upper lip vermilion, Decreased response to growth hormon... ORPHA:3455
Tolchin-Le Caignec Syndrome
Submucous cleft hard palate, High palate, Cardiac rhabdomyoma, Narrow mouth OMIM:618971
Renal Agenesis
Hypertension, Ventricular septal defect, Anal atresia ORPHA:411709
Campomelic Dysplasia
Irregular dentition, Carious teeth, Submucous cleft hard palate, Cleft palate, Abnormal heart mor... OMIM:114290
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Short finger, Umbilical hernia ORPHA:1934
Neuroocular Syndrome
Sacral dimple, Patent foramen ovale, Short uvula, Submucous cleft hard palate, Downturned corners... OMIM:619539
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Short neck, High pala... OMIM:620330
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Meconium ileus OMIM:617239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Penile Agenesis
Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal f... ORPHA:49
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Bifid uvula ORPHA:2636

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kat6a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kat6a.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors. PLoS genetics (March 2015) Kat6atm1c(EUCOMM)Wtsi Kat6atm1a(EUCOMM)Wtsi PMC4355587
Expression atlas of the multivalent epigenetic regulator Brpf1 and its requirement for survival of mouse embryos. Epigenetics (March 2014) Kat6atm1a(EUCOMM)Wtsi Kat6atm1b(EUCOMM)Wtsi PMC4065184

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kat6atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kat6atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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