Potocki–Lupski syndrome

Also known as: 17p11.2 duplication syndrome

Reciprocal duplication of the Smith–Magenis region.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: RAI1

Etiology & mechanism

RAI1 gene dosage increase.

Gene(s) involved (1)

RAI1

Symptoms & signs (6)

autismcardiac defectsfailure to thrivehypotoniaintellectual disabilitysleep apnea

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