Phelan-McDermid syndrome
MONDO:0011652A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
Also known as: PHMDS, Phelan McDermid syndrome, Phelan-McDermid syndrome, 22q13 deletion, monosomy 22q13, monosomy type 22q13, 22q13.3 deletion syndrome, chromosome 22Q13.3 deletion syndrome
7 clinical trials for this condition and its sub-types.
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Broader categories
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Lithium shows promise for autism social deficits in small trial
Symptom relief CompletedThis pilot study tested whether lithium can improve social communication in children with autism spectrum disorder who also have a SHANK3 gene mutation (Phelan-McDermid syndrome). 22 children took either lithium or a placebo for 12 weeks. Researchers measured changes in social re…
Phase: PHASE3 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief
Last updated Jun 27, 2026 07:52 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC