Clinical features
HIVEP2 disorder is a neurodevelopmental disorder associated with global developmental delay/intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, low tone, delayed motor skills, and minor differences in facial appearance.
Prevalence
The exact prevalence of HIVEP2 disorder is not known, but it is considered to be a rare disorder. There are more and more individuals who receive this diagnosis due to advanced genetic technologies, like exome sequencing.
Inheritance
HIVEP2 disorder is caused by misspellings in the gene HIVEP2. Most cases have been due to a spontaneous misspelling that has occurred in the child only and not inherited from either of the parents. If a family has a child with HIVEP2 disorder, and neither of the parents is a carrier of the misspelling, there is still about a 1% chance of having another child who is affected, due to what is known as germline mosaicism. In germline mosaicism, the egg or sperm cell in the mother or father, respectively, may carry the misspelling, but not the other cells.