Details of Disease

General Information of Disease (ID: DISVG1JZ)

• Disease Name: X-linked intellectual disability with hypopituitarism
• Definition: An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.
• Disease Hierarchy:
  DISH7SDF: Syndromic intellectual disability
  DISG1YOH: X-linked syndromic intellectual disability
  DISVG1JZ: X-linked intellectual disability with hypopituitarism