A number sign (#) is used with this entry because Sotos syndrome (SOTOS) is caused by heterozygous mutation in the NSD1 gene (606681) or by a deletion in ...

Mean full term birth length 55.2cm [UMLS: C1861719] - Length at or greater than 97th percentile through early adolescence [UMLS: C1861720]

Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

OMIM Entries for Sotos Syndrome (View All in OMIM)

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

A rare genetic overgrowth syndrome characterized by a typical facial appearance, overgrowth with macrocephaly and variable intellectual impairment.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Malan syndrome (MALNS) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features.

Sotos syndrome (OMIM #117550) is a well-known overgrowth syndrome with autosomal dominant inheritance characterized by excessive growth during childhood, ...