GenTIGSA Gene Database on Rare Genetic Disorders
Weaver Syndrome  
Disease Aliases (16)

Camptodactyly - overgrowth - unusual facies

Camptodactyly-overgrowth-unusual facies syndrome

Ezh2 related overgrowth

Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

Weaver syndrome; wvs

Weaver-like syndrome

Weaver-smith syndrome

Wss

Wvs

Weaver smith syndrome

Weaver williams syndrome

Weaver like syndrome

Weaver syndrome

Weaver-williams syndrome

Intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate

Mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate

Associated Genes (4)
 

NCBI-RefSeq:  EED   (Embryonic ectoderm development)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EZH2   (Enhancer of zeste 2 polycomb repressive complex 2 subunit)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SUZ12   (SUZ12 polycomb repressive complex 2 subunit)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NSD1   (Nuclear receptor binding SET domain protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Weaver syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations