Autoszomális domináns
Caused by changes in one copy of KDM1A, a histone demethylase that controls gene activity.
Tünetek és jelek
Developmental delay and mild intellectual disability, often with distinctive facial features and a cleft palate. The palate can be unaffected, showing variable expression. Low muscle tone (hypotonia) has also been reported.
Mit változtat a diagnózis
Developmental, feeding and speech support, with palate assessment. Genetic counselling and parental testing guide recurrence risk for this autosomal dominant condition.
Vizsgált gének
Más néven
CPRF; palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
