ARFGEF1 is associated with a mildly syndromic form of developmental delay, which usually may include a variable association of:
• Developmental delay: from mild forms that only impact speech, to severe and global developmental delay, usually more severe on speech than on motor milestones (all patients seem to eventually acquire walking)
• Behavioural problems: ADHD, ASD, anxiety, aggressivity, borderline personality, schizoaffective problems
• Epilepsy: ranging from mild focal motor seizures, to severe and drug-resistant epilepsy meeting the criteria of Lennox-Gastaut syndrome, and include myoclonic, atonic, and tonic-clonic seizures.
• Morphological features, mainly encompassing: large and low-set ears, wide mouth, high forehead, bulbous nasal tip, and thin long facies, but also frontal bossing, triangular face, hypertrichosis, thick eyebrows, and short philtrum in isolated individuals. These morphological features are mostly mild and rarely marked.
With first symptoms before 2 years of age.
ARFGEF1