" /> Borjeson-forssman-lehmann syndrome - CISMeF





Preferred Label : Borjeson-forssman-lehmann syndrome;

Symbol : BFLS;

CISMeF acronym : BFLS; BORJ; MRXSBFL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic, borjeson-forssman-lehmann type; Mental retardation, epilepsy, and endocrine disorders; MRXSBFL; BORJ; Borjeson syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the PHD finger protein 6 gene (PHF6, 300414.0001);

Prefixed ID : #301900;

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01/05/2025


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