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Prevalence (%) of clinical parameters based on data from 1 references describing 14 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Microcephaly | nervous | 100 % | 11932988 | 2022-01-24 | |
| Short stature | skeletal | 100 % | 11932988 | 2022-01-24 | |
| Mental retardation | nervous | 57 % | 11932988 | 2022-01-24 | |
| Seizures | nervous | 43 % | 11932988 | 2022-01-24 | |
| Cancer | multi | 21 % | 11932988 | 2022-01-24 | |
| Cafe-au-lait spots | integumentary | 14 % | 11932988 | 2022-01-24 | |
| Cataract | nervous | 14 % | 11932988 | 2022-01-24 |
List of references:
High risk of malignancy in mosaic variegated aneuploidy syndrome.
Sébastien Jacquemont, Michelle Bocéno, Jean Marie Rival, Françoise Méchinaud, Albert David,
American journal of medical genetics - Apr 2002