{"id":27189,"date":"2024-05-26T16:36:28","date_gmt":"2024-05-26T14:36:28","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27189"},"modified":"2025-08-27T10:48:12","modified_gmt":"2025-08-27T08:48:12","slug":"weaver-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/weaver-syndrome\/","title":{"rendered":"Weaver Syndrome"},"content":{"rendered":"

Weaver Syndrome \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

Weaver syndrome (OMIM #277590) is a genetic disease caused by pathogenic variants in the EZH2<\/em> gene. It is characterized by macrosomia, characteristic facies, and variable intellectual impairment.<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

EZH2-associated macrosomia<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gene:<\/p>\n<\/div><\/div><\/div>

EZH2<\/i><\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

EZH2<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Function:<\/p>\n<\/div><\/div><\/div>

Histone methyltransferase which functions as a transcription factor<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Prevalence:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

None known<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

Penetrance:<\/p>\n<\/div><\/div><\/div>

Incomplete<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>