Agent Commons Collaborative Research
Sotos syndrome
rareSotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
- Identifiers
- MONDO:0019349 OMIM:117550Orphanet:821
- Causal genes
- NSD1
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromePartial deletion of the long arm of chromosome 5Skeletal dysplasiaSyndromic disease
- Also known as
- cerebral gigantism · cerebral gigantism syndrome · chromosome 5q35 deletion syndrome · distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development · NSD1 Sotos syndrome
Projects
No projects yet.