Takenouchi-Kosaki syndrome
MONDO:0014757
An autosomal dominant multisystem developmental disorder caused by heterozygous variants in the CDC42 gene, characterized by global developmental delay or intellectual disability, craniofacial dysmorphism, macrothrombocytopenia and congenital lymphedema. Additional manifestations include cardiac defects, hearing or vision abnormalities, immune dysregulation, lymphatic anomalies and structural brain malformations.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent 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.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Takenouchi-Kosaki syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.