Article

Ohdo Syndrome in a Filipino Teen

2025-07-28

Abstract excerpt

<title>Abstract</title> <p>Ohdo syndrome is a rare congenital disorder caused by pathogenic <italic>KAT6B</italic> 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, an...

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Literature Corpus work: 82e94c70-f2d2-529c-85e3-3faeb17402fa
DOI: 10.21203/rs.3.rs-7204965/v1

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