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Entry Name Description Category Pathway Gene
H02515 Li-Ghorbani-Weisz-Hubshman syndrome Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies ... Congenital malformation KAT8 [HSA:84148] [KO:K11308]
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