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Phelan-McDermid syndrome due to 22q13.3 deletion

MONDO:0971068

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Chromosomal disorder (12) Phelan-McDermid syndrome (7) Disease of genetic or genomic mechanism (2) Chromosome 22q deletion (0) Disease by body system or component (0) Disease by etiologic mechanism (0)

Not yet finished but already full! 1 Completed 1

10,000 genomes scoured for clues to rare brain diseases

Knowledge-focused ENROLLING_BY_INVITATION

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

Sponsor: Karolinska Institutet • Aim: Knowledge-focused

Last updated Jun 26, 2026 13:56 UTC