Is MED13L-related intellectual disability a recognizable syndrome?

Pernille Mathiesen Tørring,Martin Jakob Larsen,Charlotte Brasch-Andersen,Lotte Nylandsted Krogh,Maria Kibæk,Lone Laulund,Niels Illum,Ulrike Dunkhase-Heinl,Antje Wiesener,Bernt Popp,Giuseppe Marangi,Tina Duelund Hjortshøj,Jakob Ek,Ida Vogel,Naja Becher,Laura Roos,Marcella Zollino,Christina Ringmann Fagerberg

European Journal of Medical Genetics（2019）

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摘要

Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.

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关键词

MED13L,Intellectual disability,Developmental delay,MED13L-related intellectual disability,MED13L haploinsufficiency syndrome

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