mandibulofacial dysostosis—Guion-Almeda type

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mandibulofacial dysostosis—Guion-Almeda type2016-11-27T04:12:01+00:00

mandibulofacial dysostosis—Guion-Almeda type

PAEDIATRICS

A rare inherited disorder (OMIM:610536) characterised by microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental and speech delay, variably accompanied by choanal atresia and respiratory difficulties, conductive hearing loss, and cleft palate  

Molecular pathology Defects* of EFTUD2, which encodes a GTPase that processes precursor mRNAs into mature mRNAs, cause mandibulofacial dysostosis—Guion-Almeda type.

*In the form of haploinsufficiency due to deletions, frameshifts, splice site, nonsense, and missense mutations.

Synonyms Growth and mental retardation—mandibulofacial dysostosis—and cleft palate, mandibulofacial dysostosis with microcephaly 

References http://www.uniprot.org/uniprot/Q15029

http://www.omim.org/entry/610536

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