Table 5

Clinical manifestations in the Weaver syndrome patients carrying a NSD1 anomaly

Parental ages at birth
    Paternal age (y)35.75 (29–43)
    Maternal age (y)31 (26–34)
Sex2M/1F
Age range in years11–14
Mental retardation
    Moderate speech delay3
    Behavioural problemsNo
Additional features
    Feeding difficulties1
    Macrosomia at birth2
    Deep set nails3
    Camptodactyly3
    Clinodactyly3
    Cutis laxa2
    Metaphyseal widening2/2