Congenital-Onset Steinert Myotonic Dystrophy

Alias:

Congenital-Onset Myotonic Dystrophy Type 1

Congenital-Onset Steinert Disease

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Gene & Mutation

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Congenital-Onset Steinert Myotonic Dystrophy, is also known as congenital-onset myotonic dystrophy type 1. An important gene associated with Congenital-Onset Steinert Myotonic Dystrophy is DMPK (DM1 Protein Kinase). Affiliated tissues include eye, and related phenotypes are macrocephaly and tented upper lip vermilion

Related ID：

MALACARDS：CNG620