BCL11A

Clinical Characteristics

Intellectual disability with persistence of fetal hemoglobin syndrome (also known as Dias-Logan syndrome) is a rare condition characterized by developmental delay, intellectual disability of variable degree, and fetal hemoglobin that remains high in childhood (whereas it is normally low after birth). Many children have a low muscle tone at birth, and some of them can be shorter than their peers and have a small head size. People with this condition can also present with autism spectrum disorder, behavioural challenges, seizures, and structural malformations of the brain.