Simpson Golabi Behmel Syndrome Type 1

**Semantic type:** Disease or Syndrome

**Definition:** A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability.

**Synonyms:** - SGBS1