Phenotype #0000175059

Individual ID 00234795
Associated disease GSD2
Phenotype details age onset 1d/1d/2m; age analysis 7m/4m/5m; cardiomyopathy (HP:0001638)/cardiomyopathy (HP:0001638)/cardiomyopathy (HP:0001638); no liver/spleen involvement/no liver/spleen involvement/liver/spleen involvement; respiratory problems (HP:0002795)/no respiratory problems (-HP:0002795)/no respiratory problems (-HP:0002795)
Diagnosis/Initial glycogen storage disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite GSD-2: classic infantile onset
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pim Pijnappel
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-10 13:10:57 +02:00 (CEST)
Date last edited N/A

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.