KAT8

Clinical Characteristics

LIGOWS is characterized by intellectual disability, global developmental delay, seizures, and dysmorphisms. Autism and ADHD (attention-deficit/hyperactivity disorder) have also been described. Abnormal brain imaging is common, showing enlarged ventricles, decreased white matter volume, thin corpus callosum, and subependymal gray matter nodular heterotopia, which would suggest neuronal migration defect. Dysmorphic features encompass hypotelorism, telecanthus, epicanthal folds, upslanted palpebral fissures, fullness of the upper lids, esotropia, low-set or dysplastic ears, high or depressed nasal bridge, full lips, downturned corners of the mouth, open mouth, fifth finger clinodactyly, and overlapping toes.