Li-Ghorbani-Weisz-Hubshman Syndrome (LIGOWS)

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OMIM® 57 618974 MeSH 44 D065886

MedGen 41 CN283319 SNOMED-CT via HPO 68 128613002 162294008 16596007 203541003 204043002 224958001 229721007 246545002 246799009 246803005 253366007 253549006 263681008 29164008 30288003 313307000 38101003 405752007 406506008 430099007 44593008 62415009 70142008 7461003 83330001 84757009 91175000 95515009 more

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 05-Mar-2021)

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 depressed nasal bridge and delayed speech and language development

UniProtKB/Swiss-Prot : ⁷³ Li-Ghorbani-Weisz-Hubshman syndrome: 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.

Clinical features from OMIM®:

618974 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Li-Ghorbani-Weisz-Hubshman Syndrome

Search GEO for disease gene expression data for Li-Ghorbani-Weisz-Hubshman Syndrome.