COG5-CDG

Definicija

COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.

Pretraga

Pun naziv

COG5-CDG

Kratki naziv

-

Sinonimi

CDG syndrome type IIi_x000D_Carbohydrate deficient glycoprotein syndrome type IIi_x000D_Congenital disorder of glycosylation type IIi_x000D_CDG2I_x000D_Congenital disorder of glycosylation type 2i_x000D_CDG-IIi

Orpha broj

263487

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

E77.8

OMIM

613612

UMLS

NULL

GARD

12348

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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