IllnessWeaver syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Weaver syndrome

WS0170

Number of genes

1 Accredited laboratory test

Examined sequence length

2,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
EZH2	2256	601573	NM_004456.5	AD

Informations about the disease

Clinical Comment

Multisystem disorder, tall stature, typical face (hypertelorism, retrognathia), variable intellectual disability, camptodactyly, soft doughy skin, umbilical hernia + low hoarse cry; considerable overlap with Sotos syndrome

Synonyms

Alias: Camptodactyly-overgrowth-unusual facies syndrome (EZH2)
Alias: Weaver-Smith syndrome; WSS (EZH2)
DD: Sotos- (NSD1), Cohen-Gibson- [EED], Imagawa-Matsumoto [SUZ12], Weaver-like syndromes

Heredity, heredity patterns etc.

OMIM-Ps

601573

ICD10 Code

Bioinformatics and clinical interpretation

No text defined