Disease #03346 (CDG2J (glycosylation, congenital disorder of, type IIj), OMIM:613489)

Official abbreviation CDG2J
Name glycosylation, congenital disorder of, type IIj
OMIM ID 613489
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene COG4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2026-02-25 17:11:41 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00472641 Fam2PatII2 - relative - - Italy - - - - - CDG2J severe intellectual disability, spasticity, absent speech, microcephaly, developmental abnormalities, neuromotor delay COG4 COG4 1 1 Lucia Micale
00472642 Fam1PatII4 family, 2 affected - - - Italy - - - - - CDG2J severe intellectual disability, spasticity, absent speech, microcephaly, neuromotor delay COG4 COG4 1 2 Lucia Micale
00472643 Fam1PatII1 - relative - - Italy - - - - - CDG2J severe intellectual disability, spasticity, absent speech, microcephaly, neuromotor delay COG4 COG4 1 1 Lucia Micale
00472644 Fam2PatII1 - family, 2 affected - - Italy - - - - - CDG2J severe intellectual disability, spasticity, absent speech, microcephaly, neuromotor delay COG4 COG4 1 2 Lucia Micale
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.