Disease #00123 (MDDGA1;MEB;WWS (dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A1 (WWS, MEB)), OMIM:236670)

Official abbreviation MDDGA1;MEB;WWS
Name dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A1 (WWS, MEB)
OMIM ID 236670
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene POMT1
Associated tissues -
Disease features -
Remarks -
Date created 2013-05-01 14:12:40 +02:00 (CEST)
Date last edited 2024-01-12 21:48:15 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
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     
00001217 - - performed exome/genome analysis, detected possibly causative variants but have not yet sufficient evidence to publish - please contact me - yes - - - 1 - - MDDGA1;MEB;WWS - - - - 1 Gijs Santen
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.