All individuals with heterozygous variants in PHF5A have variable phenotypes. The majority had intrauterine growth retardation leading to postnatal short stature and all had global developmental delay. The majority developed intellectual disability later in life, varying from mild intellectual disability to severe. Congenital abnormalities comprised hypospadias in the majority of male individuals and heart defects, inguinal hernia, and sacral dimple in the minority of subjects. Craniofacial dysmorphism is variable with high forehead and preauricular skin tag(s) as the most consistent features. Hypotonia and epilepsy have also been observed.
For a more detailed phenotypic description see the ‘Graph and Chart’ section.
PHF5A