Lujan-Fryns syndrome

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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.