Medical EditorDr. Nicholas Bush MBBS BSc (Hons)
2 min read
Last Updated: 8 August 2024
Ohdo Syndrome Maat-Kievit-Brunner Type
Medical EditorDr. Nicholas Bush MBBS BSc (Hons)
2 min read
Last Updated: 8 August 2024
Ohdo Syndrome Maat-Kievit-Brunner Type
Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic disorder characterised by distinct facial features, intellectual disability, and congenital heart defects. This syndrome also involves delayed motor development and hypothyroidism. Ohdo syndrome Maat-Kievit-Brunner type is inherited in an autosomal dominant pattern, typically resulting from mutations in the KAT6B gene.