"macrocephaly."
"Noonan-like face"
"The disease is caused by a heterozygous mutation in the SPRED1 gene, which acts as a negative regulator of RAS pathway and interacts with neurofibromin, the product of the NF1 gene."
"Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterised by multiple café-au-lait spots, with or without freckles and macrocephaly."
"History and etymology"