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Prevalence (%) of clinical parameters based on data from 1 references describing 36 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 |
| Hypertelorism | skeletal | 100 % | 24214728 | 2019-09-29 | |
| Bossed forehead | skeletal | 100 % | 24214728 | 2019-09-29 | |
| Almond shaped palpebral fissures | skeletal | 100 % | 24214728 | 2019-09-29 | |
| Large ears | integumentary | 100 % | 24214728 | 2019-09-29 | |
| Retrognathia | skeletal | 100 % | 24214728 | 2019-09-29 | |
| Tall stature | skeletal | 91 % | 24214728 | 2019-09-29 | |
| Mental retardation | nervous | 76 % | 24214728 | 2019-09-29 | |
| Advanced bone age | skeletal | 53 % | 24214728 | 2019-09-29 | |
| Macrocephaly | skeletal | 44 % | 24214728 | 2019-09-29 | |
| Hypotonia | nervous | 42 % | 24214728 | 2019-09-29 | |
| Hernia | multi | 39 % | 24214728 | 2019-09-29 | |
| Camptodactyly | skeletal | 35 % | 24214728 | 2019-09-29 | |
| Increased birth weight | multi | 29 % | 24214728 | 2019-09-29 | |
| Hypertonia | nervous | 19 % | 24214728 | 2019-09-29 |
List of references:
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M Bird, Carol L Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I Karen Temple, Trevor Cole, Sheila Seal, , Nazneen Rahman,
American journal of medical genetics. Part A - Dec 2013