| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.1%) |
24551976 |
Ring chromosome 9 in a newborn. Aldemir O, Celik IH, Karaer K, Ceylaner G. Genet Couns. 2013;24(4):357-60. |
| Small face Micrognathia Broad eyebrow | ||
| Chromosomes, Human, Pair 9 Homo sapiens Infant, Newborn Male Ring Chromosomes | ||
| 2 (57.8%) |
10486077 |
Ring chromosome 9 with a 9p22.3-p24.3 duplication. Seghezzi L, Maraschio P, Bozzola M, Maserati E, Tupler R, Marchi A, Tiepolo L. Eur J Pediatr. 1999;158(10):791-3. |
| Trigonocephaly Micrognathia | ||
| Chromosomes, Human, Pair 9 Females Homo sapiens Infant, Newborn Phenotype Ring Chromosomes | ||
| 3 (47.5%) |
23633410 |
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tumer Z. Am J Med Genet A. 2013;161A(6):1447-52. |
| Trigonocephaly Long philtrum | ||
| Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Craniofacial Abnormalities Craniosynostosis Developmental Disabilities Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Intellectual Disability Ring Chromosomes | ||
| 4 (41.7%) |
17526969 |
Ring chromosome 9 in a dysmorphic child. Sheth J, Joshi R, Sheth F. Indian J Pediatr. 2007;74(5):507-8. |
| Microcephaly Protruding tongue | ||
| Chromosomes, Human, Pair 9 Developmental Disabilities Homo sapiens Infant Male Ring Chromosomes | ||
| 5 (39.0%) |
3265311 |
[Ring chromosome 9. Case report and review of the literature]. Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, Loeuille GA, Deminatti MM, Farriaux JP. Ann Genet. 1988;31(4):250-3. |
| Microcephaly | ||
| Chromosomes, Human, Pair 9 Females Homo sapiens Ring Chromosomes | ||
| 5 (39.0%) |
939548 |
Mental retardation and congenital malformations associated with a ring chromosome 9. Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y. Hum Genet. 1976;32(3):289-93. |
| Microcephaly | ||
| Child, Preschool Chromosome Aberrations Chromosomes, Human, 6-12 and X Cytogenetics Homo sapiens Intellectual Disability Male | ||
| 7 (4.0%) |
29760778 (5941566) |
Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9) 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature. Marsudi BA, Kartapradja H, Paramayuda C, Batubara JRL, Harahap AR, Marzuki NS. Mol Cytogenet. 2018;11:28. |
| Intellectual disability | ||
| DMRT1 | ||
| 7 (4.0%) |
27222354 |
Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature. Sivasankaran A, Kanakavalli MK, Anuradha D, Samuel CR, Kandukuri LR. Cytogenet Genome Res. 2016;148(2-3):165-73. |
| Seizure | ||
| Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 9 Congenital Heart Defects Developmental Disabilities Face Females Fluorescent in Situ Hybridization Gene Deletion Genetic Association Studies Homo sapiens Male Mosaicism Ring Chromosomes Seizures Syndrome | ||
| 7 (4.0%) |
25722017 |
Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion. Penacho V, Galan F, Martin-Bayon TA, Mayo S, Manchon I, Carrasco A, Martinez-Castellano F, Alcaraz LA. Cytogenet Genome Res. 2014;144(4):275-9. |
| Intrauterine growth retardation | ||
| Adult Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 9 Craniofacial Abnormalities Females Fetal Growth Retardation Fetus Homo sapiens Pregnancy Ring Chromosomes | ||
| 7 (4.0%) |
17054004 |
Laparoscopy for impalpable testis: classification-based management. El-Anany F, Gad El-Moula M, Abdel Moneim A, Abdallah A, Takahashi M, Kanayama H, El-Haggagy A. Surg Endosc. 2007;21(3):449-54. |
| Vanishing testis | ||
| Adult Child Child, Preschool Cryptorchidism Follow-Up Studies Homo sapiens Laparoscopy Male Orchiectomy |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000243 | Trigonocephaly | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000347 | Micrognathia | 2 |
| HP:0000274 | Small face | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000998 | Hypertrichosis | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0002020 | Gastroesophageal reflux | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0010808 | Protruding tongue | 1 |
| HP:0011229 | Broad eyebrow | 1 |
| HP:0012245 | Sex reversal | 1 |
| HP:0012870 | Vanishing testis | 1 |
| HP:0030084 | Clinodactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|