Clinical features
HIVEP2 disorder is a neurodevelopmental disorder associated with global developmental delay/intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, anxiety, hypotonia, motor impairment, and minor facial dysmorphisms.
Prevalence
The exact prevalence of HIVEP2 disorder is not known, but it is considered to be a rare disorder. There is an increasing number of diagnoses with use of exome sequencing for intellectual disability and/or autism.
Inheritance
HIVEP2 disorder is caused by loss-of-function pathogenic variants in HIVEP2. This condition is inherited in an autosomal dominant manner. Cases reported to date have been due to de novo pathogenic variants. As with other autosomal dominant de novo conditions, the recurrence risk is around 1%, which takes into account the possibility of germline mosaicism.