OMIM®:
57
Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by Li et al., 2020). (618974) (Updated 08-Dec-2022)
MalaCards based summary:
Li-Ghorbani-Weisz-Hubshman Syndrome, is also known as ligows. An important gene associated with Li-Ghorbani-Weisz-Hubshman Syndrome is KAT8 (Lysine Acetyltransferase 8). Affiliated tissues include brain, and related phenotypes are seizure and depressed nasal bridge
UniProtKB/Swiss-Prot:
73
An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia.
