Prenatal and postnatal growth retardation Dysmorphic features Hypogenitalism Stagnation of pubertal development Psychomotor delay Speech delay Intellectual disability
Italic features are present in the characteristic phenotype associated with the methylation alteration present in each patient. Patient 1 has been previously published at Mayo et al. [28], and clinical features of patient 5 are indicated in Monfort et al. [29]. BWS, Beckwith-Wiedemann syndrome; SRS, Silver-Russell syndrome; PWS, Prader-Willi syndrome; AS, Angelman syndrome; UPD(14)pat, paternal uniparental disomy for chromosome 14; UPD(14)mat, maternal uniparental disomy for chromosome 14.