/X-linked syndromic intellectual disability

/SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder

MONDO:0800474

Definition

An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.