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Article

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

American journal of medical genetics. Part A - 15 Feb 2007

Van Esch Hilde, Jansen Anna, Bauters Marijke, Froyen Guy, Fryns Jean-Pierre

Abstract excerpt

We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5),...

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Source

Identifiers

PMID: 17256798
DOI: 10.1002/ajmg.a.31572

Genes

CDKL5
NHS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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