Lujan-Fryns syndrome

(redirected from mental retardation, X-linked, with Marfanoid habitus)

Lujan-Fryns syndrome

An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root. 

Molecular pathology
Caused by defects of MED12, which encodes a protein of the CDK8 subcomplex that modulates polymerase II (POL-II)-mediator complex interactions, thereby regulating transcription initiation and re-initiation rates.
References in periodicals archive ?
(1.) Mental retardation, X-linked, with marfanoid habitus, http://www.ncbi.nlm.nih.gov/entrez/dispomim =309520.
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