| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (70.0%) |
27134897 |
Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report. Kunwar F, Pandya V, Bakshi SR. J Clin Diagn Res. 2016;10(3):GD03-5. |
| Thin upper lip vermilion Mandibular prognathia Downslanted palpebral fissures Broad fingertip | ||
| 2 (63.0%) |
19227428 |
A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome. Balci S, Gucer S, Orhan D, Karagoz T. Turk J Pediatr. 2008;50(6):595-9. |
| Microcephaly Aplasia of the 5th finger | ||
| Chromosomes, Human, Pair 13 Fatal Outcome Homo sapiens Infant, Newborn Male Syndrome Trisomy | ||
| 3 (60.5%) |
22447382 |
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. Aypar E, Sert A, Gokmen Z, Aslan E, Odabas D. Pediatr Cardiol. 2013;34(2):452-4. |
| Glossoptosis Micrognathia | ||
| Differential Diagnosis Echocardiography, Doppler, Color Females Follow-Up Studies Heart Ventricle Homo sapiens Infant, Newborn Isolated Noncompaction of the Ventricular Myocardi... Pierre Robin Syndrome | ||
| 4 (59.0%) |
19449431 |
Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. Griffith CB, Vance GH, Weaver DD. Am J Med Genet A. 2009;149A(6):1346-58. |
| Micrognathia Bulbous nose | ||
| Autopsy Child, Preschool Chromosomes, Human, Pair 13 Fatal Outcome Homo sapiens Infant, Newborn Male Mosaicism Phenotype Trisomy | ||
| 4 (59.0%) |
10451531 |
Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). Chen CP, Chern SR, Lee CC, Town DD, Chen WL, Wang W. Prenat Diagn. 1999;19(8):783-6. |
| Micrognathia Anteverted nares | ||
| Adult Ascites Chromosome Aberrations Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 16 Females Homo sapiens Kidney Oligohydramnios Pregnancy Trisomy Ultrasonography, Prenatal | ||
| 6 (57.8%) |
29278735 |
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS. Eur J Med Genet. 2018;61(5):257-261. |
| Microcephaly Overlapping fingers | ||
| RAD51C | ||
| c|SUB|G|571+5|A;RS#:145779113 c|SUB|G|935|A;RS#:779834376 | ||
| Chromosome Breakage Cleft Palate Cultured Cells DNA-Binding Proteins Fanconi Anemia Females Holoprosencephaly Homo sapiens Homozygote Infant Mutation Phenotype | ||
| 7 (57.8%) |
7573156 |
Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B. Am J Med Genet. 1995;58(1):50-3. |
| Microcephaly Micrognathia | ||
| Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 13 Fluorescent in Situ Hybridization Homo sapiens Infant Male Trisomy | ||
| 8 (57.4%) |
21344634 |
A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature. Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D. Am J Med Genet A. 2011;155A(3):638-41. |
| High palate Trigonocephaly Long philtrum Postaxial polydactyly | ||
| Adult Chromosomes, Human, Pair 13 Craniosynostosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Mosaicism Pregnancy Trisomy | ||
| 9 (55.7%) |
23666113 |
Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature. Tang HW, Liao SF, Li JS. Eur J Pediatr. 2014;173(2):251-5. |
| Long philtrum Short neck Postaxial polydactyly | ||
| Child, Preschool Chromosomes, Human, Pair 13 Developmental Disabilities Females Follow-Up Studies Homo sapiens Infant Language Development Disorders Neurologic Examination Neuropsychological Tests Social Behavior Trisomy Trisomy 13 Syndrome Turner Syndrome | ||
| 10 (55.7%) |
8010349 |
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly. Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S. Am J Med Genet. 1994;50(2):177-9. |
| Median cleft lip Polydactyly | ||
| Chromosomes, Human, Pair 13 Congenital Heart Defects Females Genitalia Holoprosencephaly Homo sapiens Infant, Newborn Male Polydactyly Syndrome Trisomy |
Total: 59
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000161 | Median cleft lip | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000476 | Cystic hygroma | Very frequent (99-80%) |
| HP:0000528 | Anophthalmia | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000601 | Hypotelorism | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
| HP:0001643 | Patent ductus arteriosus | Very frequent (99-80%) |
| HP:0001789 | Hydrops fetalis | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0007598 | Bilateral single transverse palmar creases | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000008 | Abnormality of female internal genitalia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000370 | Abnormality of the middle ear | Frequent (79-30%) |
| HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000499 | Abnormal eyelash morphology | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001362 | Calvarial skull defect | Frequent (79-30%) |
| HP:0002101 | Abnormal lung lobation | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0004467 | Preauricular pit | Frequent (79-30%) |
| HP:0005306 | Capillary hemangioma | Frequent (79-30%) |
| HP:0005562 | Multiple renal cysts | Frequent (79-30%) |
| HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
| HP:0008046 | Abnormal retinal vascular morphology | Frequent (79-30%) |
| HP:0008053 | Aplasia/Hypoplasia of the iris | Frequent (79-30%) |
| HP:0009738 | Abnormality of the antihelix | Frequent (79-30%) |
| HP:0011039 | Abnormality of the helix | Frequent (79-30%) |
| HP:0100257 | Ectrodactyly | Frequent (79-30%) |
| HP:0100627 | Displacement of the urethral meatus | Frequent (79-30%) |
| HP:0100790 | Hernia | Frequent (79-30%) |
Total: 89
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 5 |
| HP:0002488 | Acute leukemia | 5 |
| HP:0010442 | Polydactyly | 5 |
| HP:0000252 | Microcephaly | 4 |
| HP:0100259 | Postaxial polydactyly | 4 |
| HP:0007973 | Retinal dysplasia | 3 |
| HP:0009792 | Teratoma | 3 |
| HP:0009914 | Cyclopia | 3 |
| HP:0012806 | Proboscis | 3 |
| HP:0032075 | Splenopancreatic fusion | 3 |
| HP:0410030 | Cleft lip | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000243 | Trigonocephaly | 2 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000518 | Cataract | 2 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0000568 | Microphthalmia | 2 |
| HP:0001028 | Hemangioma | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001629 | Ventricular septal defect | 2 |
| HP:0001838 | Rocker bottom foot | 2 |
| HP:0002580 | Volvulus | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0011330 | Metopic synostosis | 2 |
| HP:0100601 | Eclampsia | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000319 | Smooth philtrum | 1 |
| HP:0000340 | Sloping forehead | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0000773 | Short ribs | 1 |
| HP:0000790 | Hematuria | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001056 | Milia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0001342 | Cerebral hemorrhage | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0001602 | Laryngeal stenosis | 1 |
| HP:0001635 | Congestive heart failure | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001747 | Accessory spleen | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002139 | Arrhinencephaly | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002308 | Arnold-Chiari malformation | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002583 | Colitis | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002863 | Myelodysplasia | 1 |
| HP:0004392 | Prune belly | 1 |
| HP:0004691 | 2-3 toe syndactyly | 1 |
| HP:0005306 | Capillary hemangioma | 1 |
| HP:0006191 | Deep palmar crease | 1 |
| HP:0006580 | Portal fibrosis | 1 |
| HP:0006931 | Lipoma of corpus callosum | 1 |
| HP:0006970 | Periventricular leukomalacia | 1 |
| HP:0008643 | Nephroblastomatosis | 1 |
| HP:0009238 | Aplasia of the 5th finger | 1 |
| HP:0010536 | Central sleep apnea | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030728 | Meromelia | 1 |
| HP:0032165 | Placental mesenchymal dysplasia | 1 |
| HP:0040276 | Adenocarcinoma of the colon | 1 |
| HP:0100598 | Pulmonary edema | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100880 | Nephrogenic rest | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|