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Dpm3-Congenital Disorder Of Glycosylation (MONDO:0013049)

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.

Overview

Category

musculoskeletal system disorder

nervous system disorder

Ontology ID

MONDO:0013049

Internal:14087

Synonyms

CDG syndrome type Io

CDG-Io

CDG1O

DPM3-CDG

DPM3-congenital disorder of glycosylation

carbohydrate deficient glycoprotein syndrome type Io

congenital disorder of glycosylation type 1o

congenital disorder of glycosylation type Io

muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15

CDG Io

CDGIo

Cdg1(Dpm3)

DG1O

DPM3-CDG (CDG-Io)

congenital disorder of glycosylation, type Io

Mapped terms

GARD:0012395

MEDGEN:414534

MESH:C567857

OMIM:612937

Orphanet:263494

SCTID:725044000

UMLS:C2752007

Child terms

MONDO:0033556

Results

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