GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Sotos Syndrome  
Disease Aliases (16)

Cerebral gigantism

Cerebral gigantisms

Cerebral giant

Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development

Gigantism, cerebral

Gigantisms, cerebral

Sequence, sotos

Soto syndrome

Soto's syndrome

Sotos sequence

Sotos syndrome

Sotos' syndrome

Syndrome, sotos

Syndrome, sotos'

Cerebral gigantism syndrome

Associated Genes (3)
 

NCBI-RefSeq:  SETD2   (SET domain containing 2, histone lysine methyltransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

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

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  APC2   (APC regulator of WNT signaling pathway 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


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