What is CHAMP1 Gene Mutation?
“De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features”. CHAMP1 gene is located on chromosome 13q34. This gene mutation causes developmental delay with additional characteristics that may include: Hypotonia*, Microcephaly**, severe speech impairment, short stature and/or seizures; however the primary characteristics are intellectual disability and severe speech impairment.
It is a rare condition and many families are still undiagnosed.
*Hypotonia is the medical term for decreased muscle tone.
**Microcephaly is a rare neurological condition in which an infant's head is significantly smaller than the heads of other children of the same age and sex