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Browse result for Li-Ghorbani-Weisz-Hubshman syndrome
※ introduction 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).
Reference
OMIM: Li-Ghorbani-Weisz-Hubshman syndrome
Reference
OMIM: Li-Ghorbani-Weisz-Hubshman syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12921 | Q9H7Z6 | 84148 | KAT8 | Histone acetyltransferase KAT8 | Homo sapiens |
