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What is Champ 1 Gene Mutation?

This gene mutation causes developmental delay.  Here are some additional characteristics they may have: Hypotonia, Microcephaly, severe speech impairment, short statue, may have seizures, congenital abnormalities. But the primary characteristics are intellectual disability and severe speech impairment. 

Where do I find support for families with Champ 1 Gene mutation? 


If you have recieved a CHAMP1 diagnosis. 

Click link or logo below for Facebook support group:

 Is your child undiagnosed?

Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding genes in a genome (known as the exome). 

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