Angelman syndrome

Also known as: Happy puppet syndrome (obsolete)

Severe developmental delay, ataxia and happy demeanor.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, diagnosed in early childhood
Gene(s) involved: UBE3A

Etiology & mechanism

Loss of maternal UBE3A function at 15q11-q13.

Gene(s) involved (1)

UBE3A

Symptoms & signs (6)

absent speechataxiafrequent laughtermicrocephalyseizuressleep disturbance

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