Intellectual disability, autosomal dominant 5
MONDO:0012960Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.
Also known as: MRD5, SYNGAP1 autosomal dominant non-syndromic intellectual disability, SYNGAP1-related developmental and epileptic encephalopathy, autosomal dominant intellectual disability 5, autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1, epilepsy due to SYNGAP mutations, intellectual disability, autosomal dominant 5, intellectual disability, autosomal dominant type 5
9 clinical trials for this condition and its sub-types, 2 tagged with Intellectual disability, autosomal dominant 5 itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Massive study aims to unlock secrets of rare genetic disorders
Knowledge-focused Recruiting nowThis study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…
Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
-
Researchers track rare genetic disorders to prepare for future treatments
Knowledge-focused Recruiting nowThis study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over tim…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC