This website provides information on patients with mutations in the MAN1B1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by mutations in the MAN1B1 gene is a multisystem disorder known as congenital disorder of glycosylation type II (CDG type II) (MAN1B1-CDG) (Rafiq Syndrome, OMIM #614202), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia.
Not all individuals with a mutation in the MAN1B1 gene have these features.

This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment for patients with mutations in the MAN1B1  gene.

Asburce Olgac, MD, Ankara Etlik City Hospital, Ankara, Turkey,

Halil Tuna Akar, MD, Ankara Etlik City Hospital, Ankara, Turkey,

Sevil Dorum, Bursa YĆ¼ksek Ihtisas Hospital, Bursa, Turkey,

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