Fig. 1From: Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autismClinical photographs of patients with mutations in the PI3K-AKT-mTOR pathway. Clinical photographs of patients with mutations identified in the PI3K-AKT-mTOR pathway are shown. For patient 1, syndactyly is shown. Patient 7 presented with hypertelorism and frontal bossingBack to article page