Last update 08 May 2025

Angelman Syndrome

Basic Info

Synonyms
ANGELMAN SYNDROME, AS, Angelman Syndrome
+ [33]
Introduction
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Analysis

Perform a panoramic analysis of this field.
Perform a panoramic analysis of this field.
Hiro LS Researcher
The AI Search Engine Built to Accelerate Biopharma Decisions
Search across billion-scale life sciences data to uncover signals, validate evidence, and act with confidence.
Ask any biopharma research question→
Get started for free today!
Accelerate Strategic R&D decision making with Synapse, Patsnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.
Discover Synapse Data Servers
Synapse data is now integrated into the PatSnap LS Model Context Protocol (MCP) service. Customize your LLM agent now using our MCP server!
Bio
Bio Sequences Search & Analysis
Sign up for free
Chemical
Chemical Structures Search & Analysis
Sign up for free