Features include always present findings: Delayed fine motor development, Delayed speech and language development, and Delayed gross motor development; and common findings: Hypermetropia, Seizure, Periventricular heterotopia, and Feeding difficulties in infancy and others. 27 total HPO annotations.

KAT8 encodes lysine acetyltransferase 8 (458 aa). Histone acetyltransferase that catalyzes histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) or 'Lys-16' (H4K16ac), depending on the context. Highest expression in Brain Cerebellar Hemisphere (107.8 TPM) and Brain Cerebellum (102.3 TPM).

Li-Ghorbani-Weisz-Hubshman syndrome is associated with mutations in the KAT8 gene on chromosome 16.

The KAT8 protein participates in NSL acetylates histone H4, MSL acetylates histone H4, and Regulation of TP53 Activity through Acetylation pathways.

KAT8 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for KAT8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Li-Ghorbani-Weisz-Hubshman syndrome has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 6 common features.

No clinical trials have been registered for Li-Ghorbani-Weisz-Hubshman syndrome.

143 publications have been identified in PubMed for Li-Ghorbani-Weisz-Hubshman syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (13%), and Case Report / Case Series (8%).