| Category | Field | Value | Source year | Journal | DOI / URL | PMID | Citation |
|---|---|---|---|---|---|---|---|
| Identifier | Disease name | Weaver syndrome | 2012 | The American Journal of Human Genetics | https://doi.org/10.1016/j.ajhg.2011.11.018 |  | (pqac-00000005) |
| Identifier | MIM / OMIM | MIM 277590 | 2012 | The American Journal of Human Genetics | https://doi.org/10.1016/j.ajhg.2011.11.018 |  | (pqac-00000005) |
| Identifier | Abbreviation | WS | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000007) |
| Nomenclature | Synonyms / descriptors | Rare congenital overgrowth disorder; autosomal dominant overgrowth disorder; EZH2-related overgrowth syndrome | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000007) |
| Genetics | Primary causal gene | EZH2 (enhancer of zeste homolog 2) | 2011 | Oncotarget | https://doi.org/10.18632/oncotarget.385 |  | (pqac-00000006) |
| Genetics | EZH2 MIM / OMIM | MIM #601573 | 2016 | Human Mutation | https://doi.org/10.1002/humu.22946 |  | (pqac-00000002) |
| Genetics | Molecular class | Germline heterozygous pathogenic / likely pathogenic EZH2 variants, usually missense; many de novo | 2011 | Oncotarget | https://doi.org/10.18632/oncotarget.385 |  | (pqac-00000006, pqac-00000001) |
| Inheritance | Inheritance pattern | Autosomal dominant | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000007) |
| Diagnostic descriptor | Typical diagnostic basis | Characteristic overgrowth/facial phenotype plus heterozygous pathogenic EZH2 variant on genetic testing | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000007, pqac-00000031) |

| Clinical feature | Frequency / quantitative detail | Cohort / source detail | Source year | Journal | DOI / URL | PMID | Citation |
|---|---|---|---|---|---|---|---|
| Tall stature / height ≥ +2 SD | 41/45 (91%) | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Very tall stature / height ≥ +4 SD | 16 individuals | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Tall stature | ~90% | Review summary in case report | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000008) |
| Intellectual disability / developmental delay | 37/45 (82%), usually mild (21/37 mild) | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Intellectual disability / developmental delay | ~80% | Review summary in case report | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000007, pqac-00000008) |
| Camptodactyly / contractures | 45% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Umbilical hernia | 43% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Soft / doughy skin | 49% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Hoarse, low-pitched cry | 37% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Poor coordination / clumsiness | 28/35 (80%) | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Hypotonia | 44% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Hypertonia | 28% | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Birth length > +2 SD | 12/18 | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Birth weight > +2 SD | 15/39 (38%) | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Macrocephaly / enlarged head circumference | Median +1.8 SD; range up to +5.5 SD | Tatton-Brown et al. EZH2-positive cohort | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Broad forehead, hypertelorism, almond-shaped palpebral fissures, retrognathia, pointed “stuck-on” chin, large fleshy ears | Qualitative recurrent craniofacial gestalt | Summarized clinical phenotype | 2013 | American Journal of Medical Genetics Part A | https://doi.org/10.1002/ajmg.a.36229 |  | (pqac-00000010) |
| Broad thumbs, large hands, prominent digit pads, deep palmar creases, overriding toes | Qualitative recurrent skeletal/digital findings | Review summary in case report | 2024 | Molecular Syndromology | https://doi.org/10.1159/000533733 |  | (pqac-00000008) |


*Table: These tables summarize key disease identifiers and nomenclature for Weaver syndrome and compile core clinical features with reported frequencies, prioritizing Tatton-Brown 2013 and Kendir-Demirkol 2024. They are useful for rapid knowledge-base extraction of ontology-ready identifiers, inheritance, and phenotype prevalence.*