Phenotype #0000158940

Individual ID 00210375
Associated disease GKD
Phenotype details proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 810; IQ70
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-10-16 21:02:19 +02:00 (CEST)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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.