DPM3-CDG

Definicija

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

Pretraga

Pun naziv

DPM3-CDG

Kratki naziv

-

Sinonimi

CDG1O_x000D_CDG syndrome type Io_x000D_Carbohydrate deficient glycoprotein syndrome type Io_x000D_Congenital disorder of glycosylation type Io_x000D_CDG-Io_x000D_Congenital disorder of glycosylation type 1o

Orpha broj

263494

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

E77.8

OMIM

612937

UMLS

C2752007

GARD

12395

MEDDRA

NULL
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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