Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)

Alias:

Mandibulofacial Dysostosis-Microcephaly Syndrome

Mandibulofacial Dysostosis with Microcephaly

Mfdm Syndrome

Mfdm

Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate

Mfdga

Mandibulofacial Dysostosis, Guion-Almeida Type , Eftud2-Related Mandibulofacial Dysostosis with Microcephaly

Dysostosis, Mandibulofacial, Guion-Almeida Type

Guion-Almeida Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mandibulofacial Dysostosis, Guion-Almeida Type, also known as mandibulofacial dysostosis-microcephaly syndrome, is related to dysostosis and microtia. An important gene associated with Mandibulofacial Dysostosis, Guion-Almeida Type is EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway. Affiliated tissues include trachea and skin, and related phenotypes are intellectual disability and delayed speech and language development

Related ID：

MALACARDS：MND020

OMIM：610536

MESH：D008342