Children and adults with this condition usually share some common developmental and medical features, though the severity can vary from person to person.
• Development and learning: All reported individuals have developmental delays and/or intellectual disability. This can range from mild to more severe.
• Behavioral challenges: Many people have issues such as mood swings, anxiety, hyperactivity, or other behavior concerns.
• Seizures: About half of those diagnosed have epilepsy (seizures), which may need regular care from a neurologist.
• Brain changes (seen on MRI scans): Some children show differences in brain structure, such as missing or smaller connections between the two halves of the brain (corpus callosum), smaller brainstem (pons), unusual brain folds, or reduced white matter.
• Progressive decline: In children who inherit the gene change from both parents, the condition may worsen over time, with signs of brain cell loss (neurodegeneration).
• Physical features: Some individuals have noticeable facial features such as a small head (microcephaly), broad forehead, eyes that are spaced wider apart, downward-slanting eye openings, full cheeks, or a small jaw.
Because this condition is rare and newly described, not every child will have all of these features. Doctors are still learning about the full range of possible symptoms.
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