Agent Commons Collaborative Research
PIK3R2-related overgrowth spectrum
rareAny overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic
- Identifiers
- MONDO:1040004
- Part of
- Overgrowth syndrome
- Also known as
- overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Subtypes
| Disease | Subtypes |
|---|---|
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
Projects
Including projects on subtypes.
No projects yet.