The most frequent features are speech and motor developmental delay, hypotonia, congenital heart anomalies and other congenital anomalies, macrocephaly and hypogonadism in males with the disorder (decrease in testosterone levels). The average age for independent walking is 30 months and most patients communicate verbally. On cognitive assessments there is a wide range of abilities most patients have mild intellectual disability. A few have learning disabilities with a normal IQ. Adults with the condition are reported to function independently but require supervision.
CHD4