Weaver syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 36 individuals







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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%)
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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 - 12 2013