CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
[1] Individuals with the disorder often show the following signs and symptoms:[2][3] As its name suggests, the condition is caused by mutations in the CHAMP1 gene, in chromosome 13q34.
[1] They are usually sporadic, meaning the condition is not inherited from the parents.
However, if people with the disorder were to reproduce, they would have a 1 in 2 chance of giving their children a copy of the gene, because the disorder is autosomal dominant, which means that only one copy of a mutated gene (whether inherited or from a spontaneous error in cell division) is needed to pass it on to a child.
[5][6][7][8][9] Worldwide there are only around 170 known cases as confirmed by the CHAMP1 non-profits CHAMP1 UK [10] & The CHAMP1 Research Foundation.