Autozomálně dominantní
Caused by changes in one copy of KDM1A, a histone demethylase that controls gene activity.
Příznaky a projevy
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.
Co se diagnózou změní
Developmental, feeding and speech support, with palate assessment. Genetic counselling and parental testing guide recurrence risk for this autosomal dominant condition.
Analyzované geny
Známé také jako
CPRF; palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
