Disease & disorder

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

MONDO:0800474

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.

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Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

Medications under investigation

Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.