| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.7%) |
12457411 |
Three cases of tetrasomy 9p. Dhandha S, Hogge WA, Surti U, McPherson E. Am J Med Genet. 2002;113(4):375-80. |
| Micrognathia Cleft lip | ||
| Adult Amniocentesis Aneuploidy Chromosomes, Human, Pair 9 Craniofacial Abnormalities Fatal Outcome Females Homo sapiens Infant, Newborn Phenotype Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 2 (59.0%) |
25847481 |
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Du N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. Am J Med Genet A. 2015;167(6):1252-61. |
| Microretrognathia Bulbous nose | ||
| Aneuploidy Child Child, Preschool Chromosome Banding Chromosomes, Human, Pair 9 Developmental Disabilities Females Fetus Genetic Association Studies Genetic Heterogeneity Homo sapiens Intellectual Disability Male Mosaicism Oligonucleotide Array Sequence Analysis Phenotype Syndrome Trisomy | ||
| 3 (57.8%) |
8737648 |
Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p. Leichtman LG, Zackowski JL, Storto PD, Newlin A. Am J Med Genet. 1996;63(3):434-7. |
| Micrognathia | ||
| Adult Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 9 Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Face Females Head Homo sapiens Infant, Newborn Isochromosomes Male Mosaicism Pregnancy Trisomy | ||
| 4 (44.7%) |
15930905 |
Tetrasomy 9q in an infant with cleft palate and multiple anomalies. McPherson E, Neiswanger K, Surti U. Clin Dysmorphol. 2005;14(3):145-7. |
| Microcephaly Short palpebral fissure | ||
| Aneuploidy Chromosome Banding Chromosomes, Human, Pair 9 Cleft Palate Congenital Hand Deformities Developmental Disabilities Homo sapiens Infant Male Microcephaly Nose | ||
| 5 (41.0%) |
10964553 |
4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F. J Craniomaxillofac Surg. 2000;28(3):165-70. |
| Generalized hypotonia Cleft lip | ||
| Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 9 Cleft Palate Females Homo sapiens Infant Intellectual Disability Isochromosomes Polyploidy Syndrome | ||
| 6 (40.2%) |
3976721 |
The phenotypic and cytogenetic spectrum of partial trisomy 9. Wilson GN, Raj A, Baker D. Am J Med Genet. 1985;20(2):277-82. |
| Microcephaly Bulbous nose | ||
| Chromosome Banding Chromosomes, Human, 6-12 and X Females Homo sapiens Infant, Newborn Intellectual Disability Phenotype Syndrome Trisomy | ||
| 7 (39.0%) |
19655321 |
Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. Nakamura-Pereira M, Cima LC, Llerena JC Jr, Guerra FA, Peixoto-Filho FM. J Clin Ultrasound. 2009;37(8):471-4. |
| Dandy-Walker malformation | ||
| Amniocentesis Chromosome Aberrations Chromosomes, Human, Pair 9 Dandy-Walker Syndrome Differential Diagnosis Females Homo sapiens Pregnancy Young Adult | ||
| 7 (39.0%) |
17515299 |
Phenotypic and cytogenetic spectrum of 9p trisomy. Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM. Genet Couns. 2007;18(1):29-48. |
| Dandy-Walker malformation | ||
| Child Child, Preschool Chromosome Banding Chromosomes, Human, Pair 9 Cytogenetic Analysis Females Genotype Homo sapiens Infant Male Phenotype Syndrome Trisomy | ||
| 7 (39.0%) |
15503289 |
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report. Deurloo KL, Cobben JM, Heins YM, de Ru M, Wijnaendts LC, van Vugt JM. Prenat Diagn. 2004;24(10):796-8. |
| Dandy-Walker malformation | ||
| Adult Amniotic Fluid Aneuploidy Chromosomes, Human, Pair 9 Cytogenetic Analysis Dandy-Walker Syndrome Females Fetal Diseases Fluorescent in Situ Hybridization Gestational Age Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 7 (39.0%) |
15305350 |
Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation. Hengstschlager M, Bettelheim D, Drahonsky R, Repa C, Deutinger J, Bernaschek G. Prenat Diagn. 2004;24(8):623-6. |
| Dandy-Walker malformation | ||
| Adult Amniocentesis Aneuploidy Chorionic Villi Sampling Chromosomes, Human, Pair 9 Dandy-Walker Syndrome Females Fluorescent in Situ Hybridization Gestational Age Homo sapiens Pregnancy Ultrasonography, Prenatal |
Total: 82
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000363 | Abnormality of earlobe | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000646 | Amblyopia | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0003683 | Large beaked nose | Frequent (79-30%) |
| HP:0030434 | Pilomatrixoma | Frequent (79-30%) |
| HP:0000010 | Recurrent urinary tract infections | Occasional (29-5%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000110 | Renal dysplasia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000193 | Bifid uvula | Occasional (29-5%) |
| HP:0000218 | High palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000239 | Large fontanelles | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000414 | Bulbous nose | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000532 | Abnormal chorioretinal morphology | Occasional (29-5%) |
| HP:0000577 | Exotropia | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000678 | Dental crowding | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0000789 | Infertility | Occasional (29-5%) |
| HP:0000798 | Oligospermia | Occasional (29-5%) |
| HP:0000882 | Hypoplastic scapulae | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001290 | Generalized hypotonia | Occasional (29-5%) |
| HP:0001302 | Pachygyria | Occasional (29-5%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (29-5%) |
| HP:0001328 | Specific learning disability | Occasional (29-5%) |
| HP:0001369 | Arthritis | Occasional (29-5%) |
| HP:0001373 | Joint dislocation | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001528 | Hemihypertrophy | Occasional (29-5%) |
| HP:0001633 | Abnormal mitral valve morphology | Occasional (29-5%) |
| HP:0001671 | Abnormal cardiac septum morphology | Occasional (29-5%) |
| HP:0001701 | Pericarditis | Occasional (29-5%) |
| HP:0001762 | Talipes equinovarus | Occasional (29-5%) |
| HP:0002126 | Polymicrogyria | Occasional (29-5%) |
| HP:0002143 | Abnormality of the spinal cord | Occasional (29-5%) |
| HP:0002714 | Downturned corners of mouth | Occasional (29-5%) |
| HP:0002725 | Systemic lupus erythematosus | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0005912 | Biliary atresia | Occasional (29-5%) |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | Occasional (29-5%) |
| HP:0007598 | Bilateral single transverse palmar creases | Occasional (29-5%) |
| HP:0008501 | Median cleft lip and palate | Occasional (29-5%) |
| HP:0011044 | Abnormal number of permanent teeth | Occasional (29-5%) |
| HP:0011467 | Absent gallbladder | Occasional (29-5%) |
| HP:0012378 | Fatigue | Occasional (29-5%) |
| HP:0030031 | Small toe | Occasional (29-5%) |
| HP:0030880 | Raynaud phenomenon | Occasional (29-5%) |
| HP:0040262 | Glue ear | Occasional (29-5%) |
| HP:0100614 | Myositis | Occasional (29-5%) |
| HP:0200055 | Small hand | Occasional (29-5%) |
| HP:0000054 | Micropenis | Very rare (4-1%) |
| HP:0000085 | Horseshoe kidney | Very rare (4-1%) |
| HP:0000256 | Macrocephaly | Very rare (4-1%) |
| HP:0000322 | Short philtrum | Very rare (4-1%) |
| HP:0000705 | Amelogenesis imperfecta | Very rare (4-1%) |
| HP:0000719 | Inappropriate behavior | Very rare (4-1%) |
| HP:0000729 | Autistic behavior | Very rare (4-1%) |
| HP:0000752 | Hyperactivity | Very rare (4-1%) |
| HP:0001339 | Lissencephaly | Very rare (4-1%) |
| HP:0001537 | Umbilical hernia | Very rare (4-1%) |
| HP:0001651 | Dextrocardia | Very rare (4-1%) |
| HP:0001655 | Patent foramen ovale | Very rare (4-1%) |
| HP:0002089 | Pulmonary hypoplasia | Very rare (4-1%) |
| HP:0002092 | Pulmonary arterial hypertension | Very rare (4-1%) |
| HP:0011646 | Juxtaductal coarctation of the aorta | Very rare (4-1%) |
| HP:0011968 | Feeding difficulties | Very rare (4-1%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001305 | Dandy-Walker malformation | 4 |
| HP:0002119 | Ventriculomegaly | 2 |
| HP:0410030 | Cleft lip | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000798 | Oligospermia | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001290 | Generalized hypotonia | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0002958 | Immune dysregulation | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0011946 | Bronchiolitis obliterans | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0100614 | Myositis | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|