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Article

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Epilepsy & behavior : E&B - 1 Apr 2017

Kasper Burkhard S, Dörfler Arnd, Di Donato Nataliya, Kasper Ekkehard M, Wieczorek Dagmar, Hoyer Juliane, Zweier Christiane

Abstract excerpt

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare disorder caused by mutations in the PHF6 gene. It manifests as syndromic X-linked recessive intellectual disability (ID) in males and as sporadic ID due to de novo mutations in females. Clinical features include variable ID and a range of somatic manifestations constituting a distinct phenotype in both males and females, respectively, including seizures in a...

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Source

Identifiers

PMID: 28237832
DOI: 10.1016/j.yebeh.2017.01.022

Genes

PHF6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.PMID 28237832Read ↗

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