Article

Ohdo Syndrome in a Filipino Teen

2025-07-25

Abstract excerpt

Ohdo syndrome is a rare congenital disorder caused by pathogenic KAT6B variants, with fewer than 30 cases reported globally. We present the first genetically confirmed case in the Philippines: a 16-year-old female with intellectual disability, blepharophimosis, and other craniofacial features. Skeletal survey revealed micrognathia, scoliosis, negative ulnar variance, and digital abnormalities. This case highlights...

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Literature Corpus work: 628b3a33-f5f5-55de-b941-7b9dd941536f
DOI: 10.20944/preprints202507.2198.v1

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