" /> Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type - CISMeF





Preferred Label : Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type;

Symbol : MRXSLF;

CISMeF acronym : MRXSLF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with marfanoid habitus, 1; Lujan-fryns syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the S. cerevisiae homolog of mediator of RNA polymerase II transcription, subunit 12 gene (MED12, 300188.0002);

Prefixed ID : #309520;

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29/07/2025


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