Autoszomális domináns
Caused by changes in one copy of PCGF2, a component of the Polycomb repressive complex 1 that silences genes during development. A recurrent missense change, p.Pro65Leu, has been described.
Tünetek és jelek
Developmental delay and intellectual disability are central features. Distinctive facial features (facial dysmorphism) and skeletal abnormalities are also reported. Epilepsy has been reported in some cases.
Mit változtat a diagnózis
Developmental and educational support, feeding and growth monitoring, and heart and skeletal assessment. Recurrence risk depends on whether a parent carries the change, so genetic counselling and parental testing are recommended.
Vizsgált gének
Más néven
TPFS
