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Research paper

Weaver syndrome and EZH2 mutations — Clarifying the clinical phenotype

EZH2-related Weaver syndrome: >90% tall stature, ~80% ID (typically mild), epilepsy reported in a subset but less consistently than in Sotos. Significant phenotypic overlap with Sotos.

Indexed context

Tatton-Brown K, et al.

weaverezh2overgrowth

Markdown path

content/research/papers/2013-tatton-brown-weaver-ezh2.md

Findings

EZH2-related Weaver syndrome: >90% tall stature, ~80% ID (typically mild), epilepsy reported in a subset but less consistently than in Sotos. Significant phenotypic overlap with Sotos.

Why it may matter for Levi

Supports EZH2 testing as part of an epigenetic overgrowth panel. Classic camptodactyly and skin-texture findings not documented in Levi, but the phenotypic spectrum is wider than classic descriptions.

Paper text

Weaver syndrome and EZH2 mutations — Clarifying the clinical phenotype

Tatton-Brown K, et al. — American Journal of Medical Genetics Part A (2013). https://pubmed.ncbi.nlm.nih.gov/24214728/

Findings summary

EZH2-related Weaver syndrome: >90% tall stature, ~80% ID (typically mild), epilepsy reported in a subset but less consistently than in Sotos. Significant phenotypic overlap with Sotos.

Relevance to Levi

Supports EZH2 testing as part of an epigenetic overgrowth panel. Classic camptodactyly and skin-texture findings not documented in Levi, but the phenotypic spectrum is wider than classic descriptions.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
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