Disease #03789 (CDG1T (glycosylation, congenital disorder of, type It (CDG-1T)), OMIM:614921)

Official abbreviation CDG1T
Name glycosylation, congenital disorder of, type It (CDG-1T)
OMIM ID 614921
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PGM1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00225659 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - CDG1T severe PGM1-CDG - PGM1 1 1 Silvia Radenkovic
00225660 - - family, multiple individuals affected, unaffected heterozygous carrier parents M yes - - - - - - CDG1T severe PGM1-CDG phenotype - PGM1 1 3 Silvia Radenkovic
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