| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
9182778 |
New insights into the phenotypes of 6q deletions. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Am J Med Genet. 1997;70(4):377-86. |
| Micrognathia Upslanted palpebral fissure | ||
| Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 6 Females Growth Disorders Homo sapiens Male Phenotype | ||
| 2 (62.9%) |
11146459 |
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Am J Med Genet. 2000;95(5):415-24. |
| Cystic hygroma Postaxial oligodactyly | ||
| Adult Females Fetal Diseases Genes, Recessive Homo sapiens Hydrops Fetalis Infant, Newborn Limb Deformities, Congenital Lymphangioma, Cystic Male Phenotype Pregnancy Respiratory Diaphragm Syndrome Ultrasonography, Prenatal | ||
| 3 (62.2%) |
23091754 (3472535) |
Three-dimensional ultrasound findings in cornelia de lange syndrome: a case report. Akahori Y, Masuyama H, Masumoto Y, Hiramatsu Y. Case Rep Obstet Gynecol. 2012;2012:568351. |
| Micrognathia Abnormality of finger Abnormality of the forearm | ||
| 4 (61.9%) |
2063901 |
DiGeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction. el-Fouly MH, Higgins JV, Kapur S, Sankey BJ, Matisoff DN, Costa-Fox M. Am J Med Genet. 1991;38(4):569-73. |
| Thin upper lip vermilion Microcephaly Upslanted palpebral fissure Clinodactyly | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 9 Congenital Heart Defects DiGeorge Syndrome Females Homo sapiens Infant, Newborn | ||
| 5 (51.3%) |
25510708 |
Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. Tsai MC, Cheng HY, Su MT, Chen M, Kuo PL. Taiwan J Obstet Gynecol. 2014;53(4):598-601. |
| Retrognathia Long philtrum | ||
| Adult Amniocentesis Chromosomes, Human, Pair 8 Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Mosaicism Pregnancy Trisomy Uniparental Disomy | ||
| 6 (49.1%) |
25898814 (4896393) |
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly. Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA. Am J Med Genet A. 2015;167(6):1360-4. |
| Ambiguous genitalia Rhizomelia Adactyly | ||
| 46, XY Disorders of Sex Development Congenital Hand Deformities Congenital Heart Defects Facies Fatal Outcome Females Homo sapiens Infant Infant, Newborn Intestinal Volvulus Male Thymus Gland Truncus Arteriosus | ||
| 7 (44.3%) |
20949503 |
Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, Hafo F, Cine N, Savli H. Am J Med Genet A. 2010;152A(11):2791-5. |
| Short neck Cleft lip | ||
| DGCR | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 3 Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Pregnancy Young Adult | ||
| 8 (42.7%) |
12376934 |
Kousseff syndrome caused by deletion of chromosome 22q11-13. Forrester S, Kovach MJ, Smith RE, Rimer L, Wesson M, Kimonis VE. Am J Med Genet. 2002;112(4):338-42. |
| Retrognathia | ||
| Chromosome Deletion Chromosomes, Human, Pair 22 Cognition Disorders Congenital Heart Defects DNA Fatal Outcome Females Genotype Growth Disorders Homo sapiens Infant, Newborn Male Neural Tube Defects Polyacrylamide Gel Electrophoresis Syndrome | ||
| 8 (42.7%) |
11491308 |
Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22). Komatsu H, Kihara A, Komura E, Mitsufuji N, Tsujii H, Kakita S, Ikuta H. Genet Couns. 2001;12(2):137-43. |
| Retrognathia | ||
| DGCR | ||
| Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 9 Females Fluorescent in Situ Hybridization Homo sapiens Infant Syndrome Trisomy | ||
| 10 (39.0%) |
22318985 |
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. Breckpot J, Thienpont B, Bauters M, Tranchevent LC, Gewillig M, Allegaert K, Vermeesch JR, Moreau Y, Devriendt K. Am J Med Genet A. 2012;158A(3):574-80. |
| Microcephaly | ||
| CRKL | ||
| Adaptor Proteins, Signal Transducing Chromosome Deletion Chromosomes, Human, Pair 22 Congenital Heart Defects Females Homo sapiens Infant Mitogen Activated Protein Kinase 1 Nuclear Proteins |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 101
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0011611 | Interrupted aortic arch | 30 |
| HP:0001629 | Ventricular septal defect | 28 |
| HP:0011604 | Aortopulmonary window | 8 |
| HP:0001643 | Patent ductus arteriosus | 7 |
| HP:0000822 | Hypertension | 6 |
| HP:0001635 | Congestive heart failure | 6 |
| HP:0001750 | Single ventricle | 6 |
| HP:0002901 | Hypocalcemia | 6 |
| HP:0004415 | Pulmonary artery stenosis | 6 |
| HP:0011590 | Double aortic arch | 6 |
| HP:0100584 | Endocarditis | 5 |
| HP:0002098 | Respiratory distress | 4 |
| HP:0002617 | Dilatation | 4 |
| HP:0011613 | Interrupted aortic arch type B | 4 |
| HP:0000316 | Hypertelorism | 3 |
| HP:0000961 | Cyanosis | 3 |
| HP:0001710 | Conotruncal defect | 3 |
| HP:0000126 | Hydronephrosis | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0000860 | Parathyroid hypoplasia | 2 |
| HP:0001510 | Growth delay | 2 |
| HP:0001655 | Patent foramen ovale | 2 |
| HP:0001667 | Right ventricular hypertrophy | 2 |
| HP:0001746 | Asplenia | 2 |
| HP:0002721 | Immunodeficiency | 2 |
| HP:0005160 | Total anomalous pulmonary venous return | 2 |
| HP:0005301 | Persistent left superior vena cava | 2 |
| HP:0011467 | Absent gallbladder | 2 |
| HP:0031625 | Pseudoaneurysm | 2 |
| HP:0031834 | Aortopulmonary collateral arteries | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000023 | Inguinal hernia | 1 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000054 | Micropenis | 1 |
| HP:0000086 | Ectopic kidney | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0001647 | Bicuspid aortic valve | 1 |
| HP:0001650 | Aortic valve stenosis | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001694 | Right-to-left shunt | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001718 | Mitral stenosis | 1 |
| HP:0001748 | Polysplenia | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001945 | Fever | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002239 | Gastrointestinal hemorrhage | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002615 | Hypotension | 1 |
| HP:0002623 | Overriding aorta | 1 |
| HP:0002637 | Cerebral ischemia | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002791 | Hypoventilation | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0004961 | Pulmonary artery sling | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0005765 | Sacral meningocele | 1 |
| HP:0006210 | Postaxial oligodactyly | 1 |
| HP:0008905 | Rhizomelia | 1 |
| HP:0009776 | Adactyly | 1 |
| HP:0009800 | Maternal diabetes | 1 |
| HP:0010446 | Tricuspid stenosis | 1 |
| HP:0010772 | Anomalous pulmonary venous return | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0010954 | Hypoplastic right heart | 1 |
| HP:0011537 | Left atrial isomerism | 1 |
| HP:0011573 | Hypoplastic tricuspid valve | 1 |
| HP:0011612 | Interrupted aortic arch type A | 1 |
| HP:0011623 | Muscular ventricular septal defect | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012304 | Hypoplastic aortic arch | 1 |
| HP:0012721 | Venous malformation | 1 |
| HP:0025615 | Abscess | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030853 | Heterotaxy | 1 |
| HP:0030882 | Coronary artery aneurysm | 1 |
| HP:0031649 | Aortic rupture | 1 |
| HP:0031655 | Quadricuspid aortic valve | 1 |
| HP:0031853 | Isomerism | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0100336 | Bilateral cleft lip | 1 |
| HP:0100735 | Hypertensive crisis | 1 |
| HP:0100749 | Chest pain | 1 |
| HP:0100841 | Microgastria | 1 |
| HP:0410030 | Cleft lip | 1 |