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Mandibulofacial dysostosis with microcephaly MFDM is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.

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‚Ě∂Author manuscript; available in PMC Jul Clinical Relevance To better define the spectrum of EFTUD2 -associated clinical symptoms, we reviewed the clinical features of all newly reported individuals in this study Supp.

Associated Data

Each point represents an individual measurement from an affected individual; dates were corrected for prematurity if applicable.

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A fifth mutation, p. Occasionally reported anomalies, include vestibular and ossicular malformations, reduced mouth opening, atrophy of cerebral white matter, structural brain malformations, and epibulbar dermoid. Additional Supporting Information may be found in the online version of this article.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

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