Autoszomális domináns
Caused by changes that stop one copy of the SPEN gene from working. SPEN encodes a transcriptional repressor. Some changes arise de novo, and others are inherited from a parent.
Tünetek és jelek
Developmental delay and variable intellectual disability, with hypotonia and behavioural problems. Facial features can be distinctive, and high or narrow palates are common, with cleft palate occasionally seen.
Mit változtat a diagnózis
Developmental, educational and behavioural support, with assessment of the palate. Some cases arise de novo and others are inherited from a parent, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
SPEN-related neurodevelopmental disorder
