Barth syndrome is associated with a cognitive phenotype.

TitleBarth syndrome is associated with a cognitive phenotype.
Publication TypeJournal Article
Year of Publication2007
AuthorsMazzocco MMM, Henry AE, Kelly RI
JournalJournal of developmental and behavioral pediatrics : JDBP
Volume28
Issue1
Pagination22-30
Date Published2007 Feb
Abstract

Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.

DOI10.1007/s11832-007-0006-8
Alternate JournalJ Dev Behav Pediatr