All individuals with pathogenic variants in PHF5A have variable clinical features. The majority had intrauterine (=during pregnancy) growth retardation leading to short stature later and all have motor and speech delay and developmental delay. The majority developed intellectual disability later in life, varying from mild intellectual disability to severe. Congenital abnormalities comprised hypospadias (= opening of the urethra is not located at the tip of the penis) in the majority of male individuals and heart defects, inguinal hernia (= groin hernia/protrusion), and sacral dimple (= an indentation or pit in the skin on the lower back) in the minority of subjects. Craniofacial dysmorphism is variable with high forehead and preauricular skin tag(s) (= a small skin tag in front of the outside part of the ear) as the most consistent features. Hypotonia (= low muscle tone) and epilepsy have also been observed.
For a more detailed phenotypic description see the ‘Graph and Chart’ section.
PHF5A