Macrocephaly Autism Syndrome

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Review clinical trials related to Macrocephaly Autism Syndrome. Use filters to narrow results by trial status, phase, treatment, biological sex and sponsor.

Condition / disease
Location
Status: Recruiting

PTEN Hamartoma Tumor Syndrome Pediatric Patient Registry

PtenTurkiye.org' is a national ( Turkish), web-based registry for PTEN Hamartoma Tumour ( PHTS) syndrome established in 2022. It is designed to increase awareness, gather scientific knowledge by collaboration and increase data accessibility, collect high-quality data on the epidemiology, genetic background and natural history of PHTS especially for pediatric patients so that more accurate follow up guidelines can be recommended.

Participants needed: 100
Trial details
Age: 1+Biological sex: AllType: ObservationalSponsor: Yale UniversityUpdated: Dec 4, 2025Locations: 1Duration: 3 Years
Eligibility criteria

Patients who have clinical findings of PHTS and have mutation in PTEN gene ( VUS...

Patients who do not have clinical findings of PHTS and do not have mutation in P...