When a disorder is traced back to a pathogenic variant in the SYNGAP1 gene, it is called a SYNGAP1 -related disorder. In many children with SYNGAP1 -related disorders, delays in achieving developmental milestones during infancy or early childhood may be the first indication of the condition.

SYNGAP1 -related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking.

SYNGAP1-related disorder is a genetic disorder that leads to seizures and developmental problems. The gene that causes the disorder is called SYNGAP1. Certain variants, also called mutations, of this gene can cause a range of neurological symptoms. The most common symptoms begin in infancy or childhood. They include:

The SYNGAP1 Foundation stands as a pioneering force, holding the distinction of being the world's first organization dedicated to propelling research initiatives for the betterment of patients and families affected by SYNGAP1-related Disorders and …

SYNGAP1 -related disorders (SRD) are rare genetic disorders caused by a variant on the SYNGAP1 gene. The SYNGAP1 gene is located on Chromosome 6 and is responsible for producing the SYNGAP protein. This protein acts as a regulator in the synapses – where neurons communicate with each other.

Feb 21, 2019 · SYNGAP1 -related intellectual disability (SYNGAP1- ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (≤50%). To date more than 50 individuals with SYNGAP1- ID have been reported.

SynGAP is an abundant synaptic GTPase-activating protein (GAP) critical for synaptic plasticity, learning, memory, and cognition. Mutations in SYNGAP1 in humans result in intellectual disability, autistic-like behaviors, and epilepsy.

The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. Learn about this gene and related health conditions.

SynGAP (Synteny-based Gene Structure Annotation Polisher) is a command-line software written in Python3, suitable for Linux operating systems. And we provides the image that can be used for other operating systems such as MacOS and Windows.

SYNGAP1 is a rare genetic condition that causes learning disabilities. It affects both boys and girls and generally occurs randomly. SYNGAP1 often causes seizures, language delays, emotional and behavioural challenges, sleep problems, and motor delays.