| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
30512160 |
[Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome]. He T, Cui D, Huang Y, Luo X, Yang J. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35(6):844-847. |
| Microcephaly | ||
| BUB1B | ||
| c|DEL|826|G;RS#:758621119 c|SUB|G|2441|A;RS#:28989182 p|FS|D|276|M|21;RS#:758621119 p|SUB|R|814|H;RS#:28989182 | ||
| Aneuploidy DNA Mutational Analysis Females Homo sapiens Infant Mosaicism | ||
| 1 (39.0%) |
16059936 |
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F. Am J Med Genet A. 2005;137(2):204-7. |
| Microcephaly | ||
| Aneuploidy Craniofacial Abnormalities Developmental Disabilities Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Infant Male Microcephaly Syndrome | ||
| 1 (39.0%) |
11932988 |
High risk of malignancy in mosaic variegated aneuploidy syndrome. Jacquemont S, Boceno M, Rival JM, Mechinaud F, David A. Am J Med Genet. 2002;109(1):17-21; discussion 16. |
| Microcephaly | ||
| Aneuploidy Fatal Outcome Females Growth Disorders Homo sapiens Male Microcephaly Mosaicism Neural Tube Defects Syndrome | ||
| 4 (4.0%) |
30147898 (6099013) |
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing. Brightman DS, Ejaz S, Dauber A. Clin Case Rep. 2018;6(8):1531-1534. |
| Short stature | ||
| CEP57 | ||
| 4 (4.0%) |
30010053 |
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. De la Torre-Garcia O, Mar-Aldama R, Salgado-Sangri R, Diaz-Gomez N, Bonilla-Arcaute L, Diaz-Ponce-Medrano J, Guevara-Yanez R, Cordova EJ, Monge-Cazares T, Orozco L, Martinez-Hernandez A. Eur J Med Genet. 2019;62(3):195-197. |
| Respiratory insufficiency | ||
| BUB1B CEP57 | ||
| c|DUP|915_925|| | ||
| Gene Duplication Homo sapiens Homozygote Infant Male Microtubule-Associated Proteins Mosaicism Nuclear Proteins | ||
| 4 (4.0%) |
21190457 |
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD. N Engl J Med. 2010;363(27):2628-37. |
| Premature chromatid separation | ||
| BUB1B | ||
| c|SUB|A|2386-11|G;RS#:751421137 rs751421137 | ||
| Adenocarcinoma Adenoma Adenomatous Polyposis Coli Protein DNA Mutational Analysis Females Gastrointestinal Neoplasms Genetic Predisposition to Disease Genomic Instability Germ-Line Mutation Homo sapiens Homozygote Male Mosaicism Oligonucleotide Array Sequence Analysis Phenotype Protein-Serine-Threonine Kinases Spindle Apparatus |
Total: 64
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000501 | Glaucoma | Very frequent (99-80%) |
| HP:0000518 | Cataract | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0001305 | Dandy-Walker malformation | Very frequent (99-80%) |
| HP:0001541 | Ascites | Very frequent (99-80%) |
| HP:0001561 | Polyhydramnios | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0003560 | Muscular dystrophy | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007957 | Corneal opacity | Very frequent (99-80%) |
| HP:0010880 | Increased nuchal translucency | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Frequent (79-30%) |
| HP:0000325 | Triangular face | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000340 | Sloping forehead | Occasional (29-5%) |
| HP:0000348 | High forehead | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0000445 | Wide nose | Occasional (29-5%) |
| HP:0000457 | Depressed nasal ridge | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (29-5%) |
| HP:0000929 | Abnormal skull morphology | Occasional (29-5%) |
| HP:0001000 | Abnormality of skin pigmentation | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001360 | Holoprosencephaly | Occasional (29-5%) |
| HP:0001510 | Growth delay | Occasional (29-5%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001659 | Aortic regurgitation | Occasional (29-5%) |
| HP:0001679 | Abnormal aortic morphology | Occasional (29-5%) |
| HP:0001680 | Coarctation of aorta | Occasional (29-5%) |
| HP:0001682 | Subvalvular aortic stenosis | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002101 | Abnormal lung lobation | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002247 | Duodenal atresia | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002667 | Nephroblastoma | Occasional (29-5%) |
| HP:0002797 | Osteolysis | Occasional (29-5%) |
| HP:0002817 | Abnormality of the upper limb | Occasional (29-5%) |
| HP:0002859 | Rhabdomyosarcoma | Occasional (29-5%) |
| HP:0002863 | Myelodysplasia | Occasional (29-5%) |
| HP:0003003 | Colon cancer | Occasional (29-5%) |
| HP:0004209 | Clinodactyly of the 5th finger | Occasional (29-5%) |
| HP:0006721 | Acute lymphoblastic leukemia | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0012126 | Stomach cancer | Occasional (29-5%) |
| HP:0100650 | Vaginal neoplasm | Occasional (29-5%) |
| HP:0200008 | Intestinal polyposis | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 1 |
Total: 5