Weaver Syndrome (WVS)

Alias:

Weaver-Williams Syndrome

Weaver-Smith Syndrome

Wss

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Weaver-Like Syndrome

Wvs

Camptodactyly-Overgrowth-Unusual Facies

Camptodactyly Overgrowth Unusual Facies

Weaver Syndrome, Type 2

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Weaver Syndrome, also known as weaver-williams syndrome, is related to overgrowth syndrome and sotos syndrome, and has symptoms including muscle spasticity An important gene associated with Weaver Syndrome is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include bone and skin, and related phenotypes are microcephaly and cleft palate

Related ID：

MALACARDS：WVR001

OMIM：277590

MESH：C562443