Term Name:	Proteus syndrome
Synonyms:	Wiedemann's syndrome
Definition:	A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis.
Ontology:	Human Disease [DOID:13482]   ( DOID:13482 )