Somatic mutations in the PIK3CA have been identified as a cause of<unk> . PIK3CA is a protein involved in the PI3K-AKT signalling pathway. Mutations in other parts of this pathway cause other overgrowth syndromes including Proteus syndrome and hemimegaencephaly.
CLOVES syndrome
RAPADILINO syndrome
Fryns-Aftimos syndrome
RIDDLE syndrome
CAMFAK syndrome
Crigler–Najjar syndrome
GRACILE syndrome
Helsmoortel-Van der Aa syndrome