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
CDG syndrome type Io
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type Io
CDG-Io
Congenital disorder of glycosylation type 1o
Orpha broj
263494
Kategorija
Podkategorija
Naziv na stranom jeziku
-
Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
-
ICD 10
E77.8
OMIM
612937
UMLS
C2752007
GARD
12395
MEDDRA
NULL
Tekstualni opis
-
Etiologija
-
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
-
Tretman
-
Dijagnostičke metode
-
Antenatalna dijagnoza
-
Epidemiologija
-
Genetsko savetovanje
-
Terapija
-
Klinička istraživanja
-