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Article

Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.

Pediatric neurology - 1 Nov 2017

Sidhu Mandeep, Brady Lauren, Tarnopolsky Mark, Ronen Gabriel M

Abstract excerpt

BACKGROUND: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias. PATIENT DESCRIPTION: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and...

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Adolescent
Autism Spectrum Disorder
Brain
Developmental Disabilities
Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Electroencephalography

Magnetic Resonance Imaging

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Identifiers

PMID: 28967461
DOI: 10.1016/j.pediatrneurol.2017.07.010

Genes

NAA10

Variants

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