Autoszomális domináns
Caused by a change in one copy of USP7, an enzyme that controls the stability of many proteins, including some involved in brain development. Changes can reduce or increase its activity, and they usually arise de novo.
Tünetek és jelek
Developmental delay with speech delay, and intellectual disability that varies, with up to half of affected people having normal-range intellect. Autism, anxiety, aggression and other behavioural differences are common, as are low muscle tone, feeding difficulties and eye problems such as long-sightedness, squint or nystagmus. Less often there are seizures or underdeveloped genitals in males.
Mit változtat a diagnózis
Developmental, speech, educational and behavioural support, with neurological and eye assessment and seizure treatment when needed. Most cases arise de novo, but genetic counselling and parental testing guide recurrence risk; rarely the change is inherited from a parent.
Vizsgált gének
Más néven
HAFOUS; USP7-Related Diseases
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Hao-Fountain syndrome due to USP7 mutation
