PhenomeGene — Human Disease Gene Website SeriesHIST1H1E

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.