Problems linked to ZDHHC9 mutation can include floppiness at birth (hypotonia), eye problems (squint, long-sight) and developmental delay (late sitting and walking).
Speech and communication problems are particularly important in this group – children often have difficulty making clear sounds and words, and they can get frustrated when people do not understand what they are trying to say. It can also be difficult for children with ZDHHC9 to concentrate for long periods of time, and some adults have trouble with problem-solving.
Most individuals with ZDHHC9 develop epilepsy during childhood, but fits / seizures are usually easy to control with medication. Epilepsy can be difficult to diagnose, because fits often happen at night-time – an EEG will confirm if epilepsy is present and requires treatment.
As more people around the world are diagnosed with ZDHHC9 variants, we will gain a better picture of the range of difficulties they may experience during childhood, adolescence and adult life. Several adults with ZDHHC9 variants live independently and have jobs and families of their own. Others need some support for independence, and more rarely they may require ongoing close care.