Phelan-McDermid syndrome

MONDO:0011652

A 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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Sub-types

Phelan-McDermid syndrome due to SHANK3 mutation (2) Phelan-McDermid syndrome due to 22q13.3 deletion (0)

Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)

Trials to join now! 4 Not yet finished but already full! 1 Completed 2

Gene therapy injection into the brain aims to treat rare genetic disorder

Disease control Ongoing

This early-stage trial tests a single injection of RB001, a gene therapy, directly into the fluid around the brain of children with Phelan-McDermid syndrome caused by SHANK3 gene changes. The study includes up to 8 children aged 3 to 17 and primarily checks whether the treatment …

Phase: PHASE1 • Sponsor: Peking University First Hospital • Aim: Disease control

Last updated Jul 02, 2026 00:00 UTC

Phelan-McDermid syndrome

Sub-types

Broader categories

Gene therapy injection into the brain aims to treat rare genetic disorder