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Article

Functional abilities in children and adults with the CDKL5 disorder.

American journal of medical genetics. Part A - 1 Nov 2016

Fehr Stephanie, Downs Jenny, Ho Gladys, de Klerk Nick, Forbes David, Christodoulou John, Williams Simon, Leonard Helen

Abstract excerpt

Functional abilities in the CDKL5 disorder have been described as severely impaired, yet some individuals are able to run and use phrases for speech. Our study investigated gross motor, hand function, and expressive communication abilities in individuals with the CDKL5 disorder. Data for 108 females and 16 males registered with the International CDKL5 disorder database and with a pathogenic CDKL5 mutation were...

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Source

Identifiers

PMID: 27528505
DOI: 10.1002/ajmg.a.37851

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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