HIST1H1E

Clinical Characteristics

The core Rahman syndrome clinical features are an intellectual disability (most frequently in the moderate range) in association with an increased head circumference (called macrocephaly) and a characteristic facial appearance with full cheeks in early childhood and high hairline in childhood and adulthood.

Poor dentition, heart anomalies at birth and hypothyroidism are also possible/probable associations: studies are underway to clarify this.