Otopalatodigital Syndrome Type 2

About the Disease
Otopalatodigital Syndrome, Type Ii, also known as otopalatodigital syndrome type 2, is related to frontometaphyseal dysplasia and terminal osseous dysplasia. An important gene associated with Otopalatodigital Syndrome, Type Ii is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and MAPK signaling pathway. The drugs Valproic acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and brain, and related phenotypes are hearing impairment and skeletal dysplasia

Common Targets
FLNA

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