| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (74.2%) |
10321302 |
[Trisomy 9p: a clinical picture and the importance of examining the family]. van Ravenswaaij-Arts C, van der Looij E, Smeets D. Ned Tijdschr Geneeskd. 1999;143(13):682-6. |
| Short philtrum Short finger | ||
| Adult Chromosome Aberrations Chromosomes, Human, Pair 9 Family Females Genetic Counseling Homo sapiens Infant Intellectual Disability Male Syndrome Trisomy | ||
| 2 (63.5%) |
12485198 |
Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH. de Pater JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJ. Clin Genet. 2002;62(6):482-7. |
| Epicanthus Micrognathia | ||
| Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 9 Developmental Disabilities Fluorescent in Situ Hybridization Growth Homo sapiens Intellectual Disability Male 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 (47.5%) |
1084115 |
The 9p- syndrome. Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. Ann Genet. 1976;19(1):11-6. |
| Trigonocephaly Long upper lip | ||
| CHP1 | ||
| Adult Child Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 6-12 and X Craniosynostosis Dermatoglyphics Females Homo sapiens Infant Intellectual Disability Male Syndrome | ||
| 5 (45.9%) |
22821638 |
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. Rambaud J, Marey I, Dupont C, Perrin-Sabourin L, Capri Y, Tabet AC, Benzacken B, Verloes A, Aboura A, Gerard M. Am J Med Genet A. 2012;158A(9):2277-82. |
| Microcephaly Cleft lip | ||
| Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 9 Females Gene Duplication Homo sapiens Infant Magnetic Resonance Imaging | ||
| 6 (45.9%) |
1218860 |
Trisomy 9p due to paternal translocation, t(9;13) (q13;q12). Schinzel A, Hayashi K, Schmid W. Humangenetik. 1975;30(4):307-16. |
| Short upper lip Short neck | ||
| Chromosome Aberrations Chromosomes, Human, 13-15 Dermatoglyphics Females Homo sapiens Intellectual Disability Phenotype | ||
| 7 (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 | ||
| 8 (40.2%) |
19866432 |
Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report. Rossi NF, Gatto AR, Cola PC, Souza DH, Moretti-Ferreira D, Giacheti CM. Genet Mol Res. 2009;8(3):1133-8. |
| Microcephaly Bulbous nose | ||
| Chromosomes, Human, Pair 9 Deglutition Disorders Females Fluorescent in Situ Hybridization Homo sapiens Infant Language Disorders Male Phenotype Trisomy | ||
| 9 (39.0%) |
30901750 |
Choroidal artery embolization in the management of cerebrospinal fluid overproduction: case report and review of the literature. Li D, Shokuhfar T, Pantalone J, Rothstein B, Alden TD, Shaibani A, Saratsis AM. J Neurosurg Pediatr. 2019;:1-12. |
| Macrocephaly | ||
| 9 (39.0%) |
22965227 |
Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH. Kowalczyk M, Tomaszewska A, Podbiol-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kaluewski B, Zajczek S, Srebniak MI. Cytogenet Genome Res. 2013;139(1):9-16. |
| Dandy-Walker malformation | ||
| TMED2 | ||
| Abnormal Karyotype Chromosomal Duplication Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 9 Developmental Disabilities Females Homo sapiens Infant |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000411 | Protruding ear | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0000615 | Abnormal pupil morphology | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001800 | Hypoplastic toenails | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0002714 | Downturned corners of mouth | Very frequent (99-80%) |
| HP:0005105 | Abnormal nasal morphology | Very frequent (99-80%) |
| HP:0006610 | Wide intermamillary distance | Very frequent (99-80%) |
| HP:0007477 | Abnormal dermatoglyphics | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000960 | Sacral dimple | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
| HP:0011079 | Impacted tooth | Frequent (79-30%) |
| HP:0100798 | Fingernail dysplasia | Frequent (79-30%) |
| HP:0100335 | Non-midline cleft lip | Occasional (29-5%) |
Total: 27
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 3 |
| HP:0001305 | Dandy-Walker malformation | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000286 | Epicanthus | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000414 | Bulbous nose | 1 |
| HP:0000490 | Deeply set eye | 1 |
| HP:0000717 | Autism | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001798 | Anonychia | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0003089 | Hamstring contractures | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0005160 | Total anomalous pulmonary venous return | 1 |
| HP:0007269 | Spinal muscular atrophy | 1 |
| HP:0007560 | Unusual dermatoglyphics | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0200006 | Slanting of the palpebral fissure | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|