Phelan–McDermid syndrome

Also known as: 22q13 deletion syndrome

Neurodevelopmental disorder with SHANK3 haploinsufficiency.

Medical specialty: Neurology
Subspecialty: Neurology / Neurogenetics; Child psychiatry
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, from infancy
Gene(s) involved: SHANK3

Etiology & mechanism

SHANK3 loss.

Gene(s) involved (1)

SHANK3

Symptoms & signs (4)

absent speechautismdevelopmental delayhypotonia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.