Smith–Magenis syndrome

Also known as: 17p11.2 deletion syndrome

Intellectual disability with sleep disturbance and congenital heart defects.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: RAI1

Etiology & mechanism

RAI1 haploinsufficiency.

Gene(s) involved (1)

RAI1

Symptoms & signs (7)

behavioral problemshearing lossheart defectshoarse voiceself-injuryshort staturesleep disturbance

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