Lujan-Fryns syndrome(redirected from mental retardation, X-linked, with Marfanoid habitus)
Lujan-Fryns syndromeAn X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.