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Börjeson–Forssman–Lehmann syndrome

Börjeson–Forssman–Lehmann syndrome Börjeson–Forssman–Lehmann syndrome is an X-linked recessive genetic condition caused by changes in the PHF6 gene.

Börjeson–Forssman–Lehmann syndrome is an X-linked recessive genetic condition caused by changes in the PHF6 gene. It is associated with severe intellectual disability and may also involve epilepsy, hypogonadism, hypometabolism, and obesity.

Sources

Drafting source: NCI Thesaurus. Flat export snapshot 2026-10-18. “Intellectual Developmental Disorder, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type” (C157122).
CC-BY-4.0 · Definition uses new wording; original source retains its stated licence. · Source snapshot SHA-256: b27ca135beadd46c343d248135377c5077c5447fe11b93803bfab866b84fcd38

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PsychTerms (psychterms.org), CC BY 4.0, version 1. “Börjeson–Forssman–Lehmann syndrome.” Development preview.

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Börjeson–Forssman–Lehmann syndrome

See also

Sources

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