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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:
https://m.facebook.com/groups/881644925222221?ref=bookmark
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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