Complex Neurodevelopmental Disorder With or Without Congenital Anomalies
Autozomálně dominantní
Caused by a change in one copy of MYH10 or RERE, genes involved in cell structure and gene regulation during brain development. Most changes arise new (de novo) in the affected person.
Příznaky a projevy
Developmental delay and intellectual disability of variable severity, often with autism or behavioural differences and low muscle tone. Birth differences of the brain, eyes, heart, kidneys or genitals occur in some people, depending on the gene. Less often there are seizures or hearing loss.
Co se diagnózou změní
Care involves developmental and educational support with assessment of the heart, kidneys, eyes, hearing and brain as indicated. Most cases arise de novo, but parental testing and genetic counselling help estimate recurrence risk, which is low but not zero because of possible parental mosaicism.
Zahrnuty jsou také specifické formy
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- MYH10-related neurodevelopmental disorder with congenital anomalies
- SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
